Especialidade:

Hereditary Breast Cancer and Ovarian Cancer

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 37 genes which c... Ver maisause hereditary cancer, including the main genes which cause hereditary breast and ovary cancers.

Genes Analisados: APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 EGFR EPCAM FANCC FANCM MEN1 MET MLH1 MSH2 MSH3 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D RECQL RET STK11 TP53
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Whole Exome Sequencing

The “Whole Exome Sequencing” or “Exome” is a Next Generation Sequencing (NGS) test which simultaneously analyzes almost all the exons of the 20,000 genes of the human genome. Al... Ver maisthough the exons represent 2% of the total genome, approximately 85% of the genetic changes that cause diseases are located in these regions. This test is a powerful tool to diagnose thousands of genetic diseases. The test can be requested for patients with suspicion of know genetic diseases (Example: skeletal dysplasias, muscular dystrophies) and for patients with clinical conditions of unknown causes and which may be of genetic origin (Example: intellectual disability, congenital anomalies, sexual differentiation disorders, etc.). The Exome is indicated for cases which remain with no diagnosis following investigation by other genetic tests. The Exome can also be requested in cases where there is a clinical condition that can be caused by multiple genes, for which there’s no panel test with all the genes of interest. It’s important to emphasize that the exome does not identify genetic diseases caused by nucleotide expansions.

Saiba Mais
Tempo estimado de entrega do resultado:
60 dias

Epidermolyisis Bullosa

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 25 genes causing... Ver mais epidermolysis bullosa.

Genes Analisados: CAST CD151 CDSN CHST8 COL17A1 COL7A1 CSTA DSP DST EXPH5 FERMT1 FLG2... Ver mais ITGA3 ITGA6 ITGB4 KLHL24 KRT14 KRT5 LAMA3 LAMB3 LAMC2 MMP1 PLEC SERPINB8 TGM5
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Ichthyosis and Ectodermal Dysplasia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 58 genes associa... Ver maisted to different forms of ichthyosis and ectodermal dysplasias, including Sjögren-Larsson syndrome.

Genes Analisados: ABCA12 ABHD5 ALDH3A2 ALOX12B ALOXE3 AP1S1 CDH1 CDH3 CLDN1 COG6 CSTA CYP4F22... Ver mais DLX3 EDA EDAR EDARADD ELOVL4 ERCC2 FLG GJA1 GJB2 GJB6 GRHL2 HOXC13 HR IFT122 ITPR2 JUP KDF1 KREMEN1 KRT1 KRT10 KRT14 KRT2 KRT74 KRT85 LIPN LORICRIN MBTPS2 MSX1 NECTIN1 NECTIN4 NFKBIA NIPAL4 NLRP1 PKP1 PNPLA1 POMP PRKD1 SLC27A4 SMARCAD1 SNAP29 ST14 STS TGM1 TP63 TWIST2 WNT10A
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Melanoma and Other Skin Cancers Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with hereditary forms of melanoma and other types of skin and associated cancers.

Genes Analisados: ACD ATM BAP1 BARD1 BLM BRCA1 BRCA2 BRIP1 CDK4 CDKN2A CHEK2 CYLD... Ver mais DDB2 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FH FLCN GLMN MLH1 MSH2 MSH6 PALB2 PMS2 POLD1 POLE POLH POT1 PTCH1 RAD51C RAD51D RECQL RSPO1 TERF2IP TGFBR1 TMC6 TMC8 TP53 XPA XPC
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Customized Sequencing

For Mendelian diseases which are not covered by the listed tests, Mendelics may conduct the complete sequencing (exons and flanking intronic regions) and evaluation of the number of cop... Ver maisies (CNV) through next generation sequencing (NGS) of specific genes on a customized assay.

Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Pancreatitis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Ver maisssociated with hereditary forms of recurrent pancreatitis, including 9 genes related to hyperlipoproteinemia.

Genes Analisados: APOA5 APOC2 CFTR CTRC GPIHBP1 LMF1 LPL PRSS1 SPINK1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA)

The Mitochondrial Disease Panel (Nuclear and Mitochondrial DNA) analyzes, through the NGS technique, genes related to mitochondrial diseases caused both by nuclear DNA and mitochondrial... Ver mais DNA mutations, including mitochondrial complex deficiencies, oxidative phosphorylation defects, mitochondrial depletion syndromes, Leigh syndrome, MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis and apoplexy-like episodes), Leber’s hereditary optic neuropathy, among others.

Genes Analisados: AARS2 ACAD9 AIFM1 ATP5F1A ATP5F1E ATPAF2 BCS1L BOLA3 C12ORF65 C1QBP CARS2 CHCHD10... Ver mais COA8 COX10 COX14 COX15 COX20 COX6B1 CYC1 DARS2 DDC DGUOK DNA2 EARS2 ECHS1 ELAC2 FARS2 FASTKD2 FBXL4 FDX2 FDXR FOXRED1 GFER GFM1 GTPBP3 HADHA HADHB IBA57 ISCA1 ISCA2 ISCU LIAS LIPT2 LRPPRC LYRM4 LYRM7 MARS2 MGME1 MICOS13 MPC1 MPV17 MRPL3 MRPL44 MRPS16 MRPS2 MRPS22 MRPS34 MRPS7 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TV MT-TW MT-TY MTFMT MTO1 NARS2 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA1 PCK2 PET100 PNPLA8 PNPT1 POLG POLG2 PUS1 RMND1 RNASEH1 RRM2B SCO1 SDHA SDHAF1 SDHD SFXN4 SLC25A26 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SUOX SURF1 TACO1 TANGO2 TARS2 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT10C TRMT5 TSFM TTC19 TUFM TWNK TXN2 TYMP UQCC2 UQCC3 UQCRB UQCRC2 UQCRQ VARS2 WARS2 YARS2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Hemochromatosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 5 genes related... Ver mais to the pathologic iron accumulation. This test sequences all the codifying regions of the investigated genes, not only the two common variants of HFE gene (H63D and C282Y).

Genes Analisados: HAMP HFE HJV SLC40A1 TFR2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Hereditary Colorectal Cancer Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 42 genes which c... Ver maisause hereditary gastrointestinal tract cancer. The Hereditary Colorectal Cancer Panel is part of the Hereditary Cancer Panel. The Hereditary Colorectal Cancer Panel sequences the main genes related to Familial Adenomatous Polyposis (APC and MUTYH), as well as non-polypoid forms of colorectal cancer (MLH1, MSH2, MSH6, PMS2). Other genes which increase the risk of gastrointestinal tract cancer, such as CDH1 (Diffuse Gastric Cancer) and TP53 are also sequenced. PMS2 gene, due to intrinsic gene properties, which presents difficult resolution through NGS technique, is not fully analyzed.

Genes Analisados: APC ATM AXIN2 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 EGFR EPCAM FANCC GALNT12 IPMK MEN1 MET MLH1 MSH2 MSH3 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RABL3 RAD51C RAD51D RECQL RET RNF43 RPS20 SMAD4 STK11 TP53
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Chronic Cholestatic Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of alfa-1-antitrips... Ver maisina genes related to Progressive Familial Intrahepatic Cholestasis (PFIC) and differential diagnoses such as cystic fibrosis and alpha-1-antitrypsin deficiency.

Genes Analisados: ABCB11 ABCB4 ATP8B1 CFTR JAG1 KIF12 LSR MYO5B NR1H4 PPM1F SERPINA1 TJP2... Ver mais USP53 VIPAS39 VPS33B WDR83OS
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Alagille Syndrome (20p12 region MLPA or JAG1 MLPA)

This MLPA test identifies microdeletions or microduplications in JAG1 gene and allows the diagnosis of individuals with clinical suspicious of Alagille syndrome. The Alagille syndrome... Ver mais is a disease which may affect the liver, the heart and other parts of the body. Variants detected only in JAG1 gene sequencing test cause Alagille syndrome in about 90% of the cases. Other 7% of the individuals with the syndrome are carriers of microdeletions in chromosome 20 (20p12), which include JAG1.

Genes Analisados: JAG1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Nephrotic Syndrome Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 50 genes more fr... Ver maisequently associated with the hereditary forms of nephrotic syndrome, including Alport Syndrome.

Genes Analisados: ACTN4 ADGRE1 APOL1 ARHGAP24 ARHGDIA ARHGEF17 AVIL CD2AP COL4A3 COL4A4 COL4A5 COQ2... Ver mais COQ6 COQ8B DGKE EMP2 FN1 IFIH1 IL36G INF2 ITGA3 KANK1 KANK2 LAMB2 LMX1B MAGI2 MYH9 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 PAX2 PDSS2 PLCE1 PMM2 PTPRO SCARB2 SGPL1 SLC17A5 SMARCAL1 TBC1D8B TRPC6 WNK4 WT1 XPO5
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Polycystic Kidney Disease Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 7 genes associat... Ver maised to polycystic renal diseases, including PKD1 (Polycystic Kidney Disease type 1), PKD2 (Polycystic Kidney Disease type 2), PKHD1 (Polycystic Kidney and Liver Disease) and NOTCH2 (Hajdu-Cheney Syndrome).

Genes Analisados: DNAJB11 DZIP1L GANAB NOTCH2 PKD1 PKD2 PKHD1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Treatable Disorders Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 367 genes which... Ver mais cause rare diseases of early onset and with available treatment. This panel includes all the Innate Metabolism Errors Panel genes, in addition to the analysis of genes for other rare disease classes, with neurological, immunological, hematological, metabolic, endocrine, renal, hepatic and gastrointestinal manifestations. The panel is recommended to diagnose symptomatic patients or those with altered results in other laboratory tests.

Genes Analisados: ABCB11 ABCB4 ABCC8 ABCD1 ABCD4 ABCG5 ABCG8 ACAD8 ACADM ACADVL ACAT1 ADA... Ver mais ADAMTS13 AGL AICDA AK2 AKR1D1 ALAD ALAS2 ALDH7A1 ALDOA ALDOB ALPL AMACR AMT APOA5 APOC2 AQP2 ARG1 ARSA ARSB ASL ASS1 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8B1 AVPR2 BAAT BCKDHA BCKDHB BCKDK BCL10 BLNK BSND BTD BTK CAD CARD11 CASR CD247 CD320 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B CDCA8 CFTR CIC CIITA CLCNKA CLCNKB CLDN16 CLDN19 CNNM2 COL1A1 COL1A2 CORO1A CPOX CPS1 CPT1A CPT2 CTNS CTPS1 CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP11B2 CYP17A1 CYP27A1 CYP27B1 CYP2R1 CYP7A1 CYP7B1 DBT DCLRE1C DDC DGAT1 DHFR DLD DMD DNAJC12 DNAJC21 DOCK2 DUOX2 DUOXA2 EFL1 ELANE ETFA ETFB ETFDH ETHE1 F8 F9 FAH FBP1 FCHO1 FECH FGA FLAD1 FOLR1 FOXE1 FOXN1 FOXP3 G6PC1 G6PC3 G6PD GAA GALC GALE GALK1 GALM GALNS GALT GAMT GATA2 GATM GBA GBE1 GBP1 GCDH GCH1 GCK GCSH GFI1 GGCX GJB2 GJB6 GLA GLB1 GLDC GLIS3 GLRA1 GLRB GLUD1 GOT2 GPIHBP1 GUSB GYS1 GYS2 HADH HADHA HADHB HAX1 HBB HCFC1 HESX1 HLCS HMBS HMGCL HMGCS2 HPD HSD3B2 HSD3B7 HYOU1 IDS IDUA IFNGR1 IFNGR2 IGLL1 IGSF1 IKBKB IL12B IL12RB1 IL2RA IL2RG IL7R INS INSR IRF8 IRS4 IVD IYD JAGN1 JAK3 KCNJ1 KCNJ11 LAT LCK LCT LDHA LHX3 LHX4 LIPA LMBRD1 LMF1 LPL MAGT1 MALT1 MAN2B1 MAP3K14 MC2R MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCS1 MPI MPL MPO MRAP MTHFR MTR MTRR MTTP MYD88 MYH9 NAGLU NAGS NCF2 NCF4 NEUROG3 NHEJ1 NKX2-1 NKX2-5 NNT NPC1 NPC2 NR0B1 ORAI1 OTC OTX2 OXCT1 PAH PAX8 PC PCBD1 PCCA PCCB PCK1 PDXK PFKM PGAM2 PGM1 PHEX PHGDH PHKA1 PHKA2 PHKB PHKG2 PIK3R1 PLPBP PNP PNPO POU1F1 PPOX PRF1 PRKDC PROP1 PSAT1 PSPH PTPRC PTS PYGL PYGM QDPR RAC2 RAG1 RAG2 RASGRP1 RB1 RFX5 RFXANK RFXAP RORC SBDS SCNN1A SCNN1B SCNN1G SGSH SH2D1A SI SLC12A1 SLC16A1 SLC19A1 SLC19A2 SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC26A3 SLC26A4 SLC26A7 SLC27A5 SLC2A1 SLC2A2 SLC37A4 SLC39A4 SLC46A1 SLC52A2 SLC52A3 SLC5A1 SLC5A5 SLC5A6 SLC6A5 SLC6A6 SLC7A7 SLC7A9 SMN1 SMPD1 SORD SPR SRP54 STAR STAT1 STX11 STXBP2 TANGO2 TAP1 TAP2 TAPBP TAT TBL1X TCN2 TFRC TG TH THAP11 THRA TJP2 TK2 TPK1 TPO TPP1 TRH TRHR TRPM6 TSHB TSHR TTPA TUBB1 UGT1A1 UNC13D UNG UROD UROS USP53 VDR VKORC1 VPS45 WAS WIPF1 XIAP ZAP70 ZNF143
Saiba Mais
Tempo estimado de entrega do resultado:
28 dias

Hemolytic-Uremic Syndrome Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 6 main genes ass... Ver maisociated with susceptibility to atypical hemolytic-uremic syndrome.

Genes Analisados: C3 CD46 CFB CFH CFI THBD
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Kidney Function Disorders Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 23 genes related... Ver mais to different treatable disorders of the renal function, including Bartter syndrome, Liddle syndrome, nephrogenic diabetes insipidus, Hypomagnesemia, renal tubular acidosis, Gittelman syndrome, Fabry disease, among others.

Genes Analisados: AGXT AQP2 ATP6V0A4 ATP6V1B1 AVPR2 BSND CLCNKA CLCNKB CLDN16 CLDN19 CNNM2 CTNS... Ver mais GLA GRHPR HOGA1 KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC4A4 TRPM6
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Thrombophilias Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genetic... Ver mais susceptibility genes associated with thrombosis, including Leiden"s Factor V, Prothrombin deficiency, Anti-Thrombin III deficiency, Protein C deficiency, Protein S deficiency and Thrombotic Thrombocytopenic Purpura. Note: MTHFR gene is not included in the panel because it’s a recommendation of multiple medical societies that such gene is not investigated due to the weak evidence of its relationship with thrombophilias.

Genes Analisados: ADAMTS13 F2 F5 PROC PROS1 SERPINC1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Velocardiofacial and DiGeorge Syndromes (22q11 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 22q11.2 and allows the diagnosis of patients with clinical suspicion of velocardiofacial and DiGeorge syndromes (... Ver mais22q11.2 - 22q11.2 DS deletion syndromes) The 22q11.2 deletion syndromes are particularly characterized by learning difficulty, characteristic facial signs, cardiac, palatal and immunological anomalies, among others.

Genes Analisados: TBX1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Hereditary Anemias Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Ver mais to genetic anemia conditions, including: Sickle-Cell Anemia, Beta Thalassemia, G6PD Deficiency, Shwachman-Bodian-Diamond Syndrome and Thiamine-Responsive Megaloblastic Anemia.

Genes Analisados: ABCB7 ABCD4 ABCG5 ABCG8 ACD ADA2 ADH5 AK1 ALAS2 ALDOA AMMECR1 AMN... Ver mais ANK1 APOB ATP11C ATRX BOLA2 BRCA1 BRCA2 BRIP1 CBLIF CD46 CD59 CDAN1 CDIN1 CFB CFH CFI COQ2 COX4I1 COX4I2 CPOX CTC1 CUBN DHFR DKC1 DNAJC19 DNAJC21 EFL1 EPB41 EPB42 EPO ERCC4 ERCC6L2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FECH FTCD G6PD GATA1 GCLC GLRX5 GPI GSR GSS HBA1 HBA2 HBB HK1 HMOX1 HSPA9 IREB2 IVD KCNN4 KIF23 KLF1 LARS2 LCAT LMBRD1 LPIN2 MAD2L2 MDM4 MMAA MMAB MMACHC MMADHC MMUT MPIG6B MTHFD1 MTR MTRR MYSM1 NBN NHP2 NOP10 NT5C3A PALB2 PANK2 PARN PCCA PCCB PFKM PGK1 PIEZO1 PKLR PNPO PRF1 PUS1 RACGAP1 RAD51 RAD51C RFWD3 RGL2 RHAG RPL10 RPL10A RPL11 RPL15 RPL18 RPL19 RPL26 RPL27 RPL3 RPL31 RPL34 RPL35 RPL35A RPL5 RPLP0 RPS10 RPS11 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 SBDS SC5D SEC23B SLC11A2 SLC19A1 SLC19A2 SLC25A38 SLC2A1 SLC46A1 SLC4A1 SLX4 SPTA1 SPTB SRC SRP54 SRP72 STEAP3 TALDO1 TCN2 TERT TF TFRC TGFB1 THBD TINF2 TKFC TMPRSS6 TP53 TPI1 TRNT1 TSR2 UBE2T UMPS UROD UROS VPS13A VPS4A WRAP53 XK XRCC2 YARS2 ZCCHC8
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Immunodeficiencies and Immunologic Diseases Panel (Complete)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais immunodeficiencies and other immune diseases of genetic etiology. The panel includes lymphoproliferative and Hyper-IgE syndrome.

Genes Analisados: A2ML1 ABCD4 ACD ACP5 ADA ADA2 ADAM17 ADNP AGA AICDA AIRE AK2... Ver mais ALG1 ALG12 AP3B1 ARPC1B ATM B2M BCL10 BCL11B BLM BLNK BRCA1 BRCA2 BRIP1 BTK BUB1B C1QA C1QB C1QC C1R C1S C2 C3 C5 C6 C7 C8A C8B C8ORF37 CARD11 CARD9 CASP10 CASP8 CAVIN1 CCBE1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD55 CD59 CD79A CD79B CD81 CD8A CDCA7 CDSN CEBPE CFAP298 CFAP300 CFB CFD CFH CFI CFP CHAMP1 CHD1 CHD7 CIITA CLEC7A CLPB COG6 COG7 CORO1A CPN1 CR2 CREBBP CRIPT CSF3R CTC1 CTLA4 CTPS1 CXCR4 CYBA CYBB DCLRE1C DEAF1 DHFR DKC1 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2 DNAJC21 DNAL1 DNASE1L3 DNMT3B DOCK2 DOCK8 DRC1 DSG1 EFL1 EGFR ELANE ELP1 EPG5 ERCC2 ERCC4 ERCC6L2 ETV6 EXTL3 F12 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXL4 FCGR3A FCN3 FERMT3 FMO3 FOXN1 FOXP3 G6PC3 GALNS GAS8 GATA1 GATA2 GFI1 GSS GTF2H5 HAX1 HELLS HGSNAT HTR1A HYDIN ICOS IFIH1 IFNGR1 IFNGR2 IGHM IGKC IGLL1 IKBKB IKZF1 IL10RA IL10RB IL12B IL12RB1 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL2RA IL2RG IL36RN IL7R IRAK4 IRF2BP2 IRF7 IRF8 ISG15 ITCH ITGB2 ITK IVD JAGN1 JAK3 KMT2D KRAS LAMTOR2 LAT LCK LEP LIG4 LPIN2 LRBA LRRC6 LRRC8A LYST MAD2L2 MAGT1 MALT1 MAN2B1 MANBA MC2R MCM4 MEFV MGP MMAA MMAB MMACHC MMUT MOGS MPL MPO MS4A1 MSN MTHFD1 MVK MYD88 NBN NCF2 NCF4 NFASC NFE2L2 NFKB1 NFKB2 NFKBIA NGF NHEJ1 NHP2 NLRC4 NLRP12 NLRP3 NME8 NOD2 NOP10 NRAS NSMCE3 ODAD1 ODAD2 ODAD3 ODAD4 ORAI1 OXCT1 PALB2 PARN PCCA PCCB PEPD PGM3 PIK3CD PIK3R1 PLCG2 PMM2 PNP POLA1 POLE PPP1R21 PRF1 PRKCD PRKDC PSTPIP1 PTPRC RAB27A RAC2 RAD50 RAD51 RAD51C RAG1 RAG2 RASGRP1 RBCK1 RBM8A RELB RFWD3 RFX5 RFXANK RFXAP RNF113A RNF168 RNF31 RORC RPL11 RPL15 RPL18 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7 RPSA RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SAMD9 SAMD9L SAMHD1 SBDS SCNN1B SCNN1G SDCCAG8 SEMA3E SERAC1 SERPING1 SGPL1 SH2D1A SKIV2L SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC39A4 SLC39A8 SLC46A1 SLK SLX4 SMARCAL1 SMARCD2 SNAI2 SP110 SPAG1 SPATA5 SPINK5 SRP72 STAT1 STAT2 STAT3 STAT5B STIM1 STING1 STK4 STN1 STX11 STXBP2 TALDO1 TAP1 TAP2 TAPBP TAZ TBCE TBX1 TBXAS1 TCN2 TERT TFRC TGFB3 TINF2 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TPI1 TRAC TRAF3IP2 TRNT1 TRPS1 TSR2 TTC37 TTC7A TYK2 UBE2T UMPS UNC119 UNC13D UNG USB1 VIPAS39 VPS13B VPS33B VPS45 WAS WIPF1 WRAP53 XIAP XRCC2 ZAP70 ZBTB24 ZMYND10
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Primary Immunodeficiencies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 59 genes related... Ver mais to a number of primary immunodeficiencies, and other immune system diseases, including agamaglobulinemias (Antibody Deficiency), functional neutrophil deficiencies and neutropenias, chronic granulomatous diseases, hemophagocytic lymphohistiocytoses, atypical mycobacterioses, among others.

Genes Analisados: ADA AICDA BLNK BTK CD247 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B... Ver mais CIITA CYBA CYBB DCLRE1C ELANE FOXN1 FOXP3 G6PC3 GATA2 GFI1 HAX1 IFNGR1 IFNGR2 IGLL1 IL12RB1 IL2RG IL7R JAK3 LRRC8A MAGT1 MPO MYD88 NCF2 NCF4 NHEJ1 ORAI1 PNP PRF1 PTPRC RAC2 RAG1 RAG2 RFX5 RFXANK RFXAP SH2D1A STAT1 STX11 STXBP2 TAP1 TAP2 TAPBP UNC13D UNG WAS WIPF1 XIAP
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Hemophilia A (Inv22 and Inv1)

The test allows the identification of the most frequent genetic change in individuals with severe Hemophilia A, the inversions in intron 1 and 22 of F8 gene. Hemophilia A is a genetic... Ver mais condition, where the blood does not properly clot. Excessive bleeding and hematomas, sometimes spontaneous, are symptoms of the disease. People with Hemophilia type A lack factor VIII, a protein produced by F8 gene. The inversions in intron 1 and 22 of F8 gene, identified in this test, cause approximately 48% of the severe Hemophilia A cases.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Hemophilia A and B Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of F8 and F9 genes... Ver mais, which respectively cause, Hemophilia A and Hemophilia B. Note: The severe Hemophilia A has as its main cause two variants (Inv22 and Inv1 in F8 gene) which are not analyzed in this test. Contact us for further information.

Genes Analisados: F8 F9
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Fanconi Anemia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 18 genes related... Ver mais to Fanconi Anemia.

Genes Analisados: BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI... Ver mais FANCL FANCM PALB2 RAD51 RAD51C SLX4
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Coagulation Disorders Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Ver maisssociated withcoagulation disorders, including hemophilias A and B, platelet disorders, deficiency of factors V, VII, X, XI, XII, XIII and XIIIb, among others. Attention: this test does not detect the two main mutations of Factor VIII associated withsevere hemophilia type A (Inv22 and Inv1) - the test for such mutations can be requested separately.

Genes Analisados: ACTN1 ANO6 AP3B1 ARPC1B BLOC1S3 COL4A1 COL4A2 DTNBP1 F10 F11 F12 F13A1... Ver mais F13B F2 F5 F7 F8 F9 FGA FGB FGG FLI1 GFI1B GGCX GP1BA GP1BB GP6 GP9 HPS1 HPS3 HPS4 HPS5 HPS6 ITGA2 ITGA2B ITGB3 LMAN1 MCFD2 NBEAL2 P2RY12 PLA2G4A PLAT PLAU PRKACG RASGRP2 SERPIND1 SLFN14 TBXA2R TBXAS1 VKORC1 VWF
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Autoinflammatory Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 22 genes related... Ver mais to autoinflammatory diseases.

Genes Analisados: ADAM17 ARPC1B CARD11 CD55 EGFR FOXP3 IL10RA IL10RB IL1RN IL36RN ITCH LPIN2... Ver mais MEFV MVK NLRC4 NLRP12 NLRP3 NOD2 PLCG2 PSTPIP1 TNFAIP3 TNFRSF1A
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Primary Ciliary Dyskinesia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 35 genes related... Ver mais to primary ciliary dyskinesia.

Genes Analisados: CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP298 CFAP300 DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5... Ver mais DNAAF6 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 HYDIN LRRC6 NME8 ODAD1 ODAD2 ODAD3 ODAD4 RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 ZMYND10
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Marfan Syndrome and Associated Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 61 genes associa... Ver maisted with Marfan syndrome and its differential diagnoses, including the Loeys-Dietz syndrome, hemocystinuria, genes of susceptibility to the development of ortic aneurysm, Stickler syndrome, Ehlers-Danlos syndrome, among others.

Genes Analisados: ACTA2 ADAMTS2 ADAMTSL4 AEBP1 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT7... Ver mais BGN CHST14 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 EFEMP2 ELN FBLN5 FBN1 FBN2 FKBP14 FLNA FOXE3 GORAB GZF1 HRAS KIF22 LOX LTBP2 LTBP3 LTBP4 MFAP5 MYH11 MYLK PIK3R1 PLOD1 PPP1CB PRKG1 PYCR1 RIN2 ROBO4 SKI SLC2A10 SLC39A13 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Dyslipidemias Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Ver mais to dyslipidemias. The dyslipidemias cause elevation of the cholesterol level (hypercholesterolemia) and triglycerides (hipertriglyceridemia), and may lead to acute myocardial infarction.

Genes Analisados: APOB LDLR LDLRAP1 PCSK9
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Arrhythmia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes which caus... Ver maise several forms of hereditary arrhythmias, including Brugada Syndrome, Long QT Syndrome, Short QT Syndrome, among others.

Genes Analisados: AARS2 ABCC6 ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADCY5 AGK AGL... Ver mais AHCY ALG1 ALG12 ALMS1 ALPK3 ANK2 ANKS6 ARSB ATAD3A ATP5F1E ATPAF2 BAG3 BCS1L BMP2 BOLA3 BRAF BSCL2 C1QBP C1QTNF5 CACNA1C CACNB2 CALM1 CALM2 CALM3 CALR3 CAP2 CASQ2 CAV3 CAVIN1 CENPE CEP19 CHKB CLIC2 CLN3 COA5 COA6 COA8 COQ2 COQ4 COX10 COX14 COX15 COX20 COX6B1 COX7B CPT1A CPT2 CRYAB CSRP3 CTNNA3 D2HGDH DCAF8 DES DIP2A DLD DMD DNAJC19 DOLK DPM3 DPP6 DSC2 DSG2 DSP DTNA ECHS1 ELAC2 EMD EPG5 ERBB3 EYA4 FAH FASTKD2 FBXL4 FHL1 FHOD3 FIG4 FKRP FKTN FLAD1 FLNC FNIP1 FOXRED1 FTO FUCA1 FXN GAA GATAD1 GBE1 GJA5 GLA GLB1 GMPPB GNAI2 GNB5 GNPTAB GNS GPC3 GPD1L GSN GTPBP3 GYS1 HADH HADHA HADHB HCCS HCN4 HGSNAT HPS1 HRAS HSD17B10 IDH2 IDUA ITPA JPH2 JUP KCNA5 KCND3 KCNE2 KCNE3 KCNH1 KCNH2 KCNJ2 KCNJ5 KCNQ1 KIF20A LAMA4 LAMP2 LDB3 LIAS LMNA MAP2K1 MAP2K2 MCCC2 MCM10 MGME1 MIB1 MLYCD MMUT MRPL3 MRPL44 MRPS22 MRPS7 MT-TI MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK2 MYO6 MYOT MYOZ2 MYPN NAGLU NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NEXN NKX2-5 NONO NPPA NRAP NUBPL NUP155 PAM16 PCCA PCCB PET100 PGM1 PHYH PIGT PKP2 PLEKHM2 PLN PMM2 PNPLA2 POLG POMT1 PPCS PPP1R13L PRDM16 PRG4 PRKAG2 PRKAR1A PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 RAB3GAP2 RAF1 RBCK1 RBM20 RIT1 RMND1 RPL3L RRAGD RYR2 SCN1B SCN2B SCN3B SCN5A SCO1 SCO2 SDHA SDHAF1 SDHD SELENON SGCA SGCB SGCD SGCG SGSH SHMT2 SHOC2 SLC19A2 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC30A5 SLC6A6 SOD2 SOS1 SPEG SURF1 SYNE1 SYNE2 TACO1 TAF1A TANGO2 TAPT1 TAZ TBX1 TBX3 TBX5 TCAP TECRL TF TGFB3 TIMMDC1 TMEM126A TMEM126B TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TOR1AIP1 TPM1 TPM3 TRDN TRIT1 TRMT5 TRNT1 TRPM7 TSC1 TSFM TTN TTR TWNK UBR1 UQCRFS1 VCL VPS33A WFS1 XK XPNPEP3 YARS2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Cardiomyopathy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the genes more f... Ver maisrequently associated with different forms of hereditary myocardiopathy, including dilated myocardiopathies, hypertrophic myocardiopathies, ventricular non-compaction, among others.

Genes Analisados: AARS2 ABCC6 ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADCY5 AGK AGL... Ver mais AHCY ALG1 ALG12 ALMS1 ALPK3 ANK2 ANKS6 ARSB ATAD3A ATP5F1E ATPAF2 BAG3 BCS1L BMP2 BOLA3 BRAF BSCL2 C1QBP C1QTNF5 CACNA1C CACNB2 CALM1 CALM2 CALM3 CALR3 CAP2 CASQ2 CAV3 CAVIN1 CENPE CEP19 CHKB CLIC2 CLN3 COA5 COA6 COA8 COQ2 COQ4 COX10 COX14 COX15 COX20 COX6B1 COX7B CPT1A CPT2 CRYAB CSRP3 CTNNA3 D2HGDH DCAF8 DES DIP2A DLD DMD DNAJC19 DOLK DPM3 DPP6 DSC2 DSG2 DSP DTNA ECHS1 ELAC2 EMD EPG5 ERBB3 EYA4 FAH FASTKD2 FBXL4 FHL1 FHOD3 FIG4 FKRP FKTN FLAD1 FLNC FNIP1 FOXRED1 FTO FUCA1 FXN GAA GATAD1 GBE1 GJA5 GLA GLB1 GMPPB GNAI2 GNB5 GNPTAB GNS GPC3 GPD1L GSN GTPBP3 GYS1 HADH HADHA HADHB HCCS HCN4 HGSNAT HPS1 HRAS HSD17B10 IDH2 IDUA ITPA JPH2 JUP KCNA5 KCND3 KCNE2 KCNE3 KCNH1 KCNH2 KCNJ2 KCNJ5 KCNQ1 KIF20A LAMA4 LAMP2 LDB3 LIAS LMNA MAP2K1 MAP2K2 MCCC2 MCM10 MGME1 MIB1 MLYCD MMUT MRPL3 MRPL44 MRPS22 MRPS7 MT-TI MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK2 MYO6 MYOT MYOZ2 MYPN NAGLU NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NEXN NKX2-5 NONO NPPA NRAP NUBPL NUP155 PAM16 PCCA PCCB PET100 PGM1 PHYH PIGT PKP2 PLEKHM2 PLN PMM2 PNPLA2 POLG POMT1 PPCS PPP1R13L PRDM16 PRG4 PRKAG2 PRKAR1A PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 RAB3GAP2 RAF1 RBCK1 RBM20 RIT1 RMND1 RPL3L RRAGD RYR2 SCN1B SCN2B SCN3B SCN5A SCO1 SCO2 SDHA SDHAF1 SDHD SELENON SGCA SGCB SGCD SGCG SGSH SHMT2 SHOC2 SLC19A2 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC30A5 SLC6A6 SOD2 SOS1 SPEG SURF1 SYNE1 SYNE2 TACO1 TAF1A TANGO2 TAPT1 TAZ TBX1 TBX3 TBX5 TCAP TECRL TF TGFB3 TIMMDC1 TMEM126A TMEM126B TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TOR1AIP1 TPM1 TPM3 TRDN TRIT1 TRMT5 TRNT1 TRPM7 TSC1 TSFM TTN TTR TWNK UBR1 UQCRFS1 VCL VPS33A WFS1 XK XPNPEP3 YARS2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Aortic Aneurysm Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 23 genes associa... Ver maisted to an increased risk for the development of primary aortic aneurysm, including the genes which cause Cutis Laxa, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, Marfan Syndrome, Meester-Loeys Syndrome, Shprintzen-Goldberg Syndrome, among others.

Genes Analisados: ACTA2 BGN COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 EFEMP2 FBLN5 FBN1 LOX MFAP5... Ver mais MYH11 MYLK PRKG1 SKI SLC2A10 SMAD3 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Retinoblastoma

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of RB1 gene. The te... Ver maisst allows the diagnosis of patients with suspected retinoblastoma. RB1 gene is a tumor suppressor gene which regulates cell growth. Retinoblastoma is a malignant tumor which develops in the retina, generally before five years old. Variants detected only in RB1 gene sequencing test (point mutations) are identified in more than 80% of the affected individuals. Microdeletions or microduplications (CNV) in the gene are responsible for up to 20% of the cases.

Genes Analisados: RB1
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Hereditary Retinopathy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais genetic etiology retinopathies, including different forms of pigmentary retinosis, Bardet Biedl syndrome, Stargardt disease, cones and rods dystrophy, neuronal ceroid lypofuscinosis, Usher syndrome and others.

Genes Analisados: ABCA4 ABCB5 ABCC6 ABCD1 ABHD12 ACO2 ADAM9 ADGRV1 AGBL5 AHI1 AHR AIPL1... Ver mais ALMS1 ALPK1 AMACR ARFGAP2 ARHGEF18 ARL13B ARL2BP ARL6 ARSG ASRGL1 ATF6 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 CA4 CABP4 CACNA1F CACNA2D4 CASK CC2D2A CDH23 CDH3 CDHR1 CEP250 CEP290 CEP41 CEP78 CERKL CFAP410 CFH CHM CISD2 CLCC1 CLN3 CLN5 CLN6 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL18A1 COL9A3 CPLANE1 CRB1 CROCC CRX CTNNA1 CTSD CWC27 CYP4V2 DHDDS DHX38 DNAJC17 DNAJC5 DYNC2H1 EFEMP1 ELOVL4 ESPN EXOSC2 EYS FAM161A FLVCR1 FRMD7 FSCN2 FZD4 GDF6 GJB2 GJB6 GNAT1 GNAT2 GNPTG GPR143 GPR179 GRK1 GRM6 GRN GUCA1A GUCA1B GUCY2D HGSNAT HK1 HMCN1 HMX1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IGFBP7 IMPDH1 IMPG1 IMPG2 INPP5E IQCB1 IRX5 ITM2B KCNJ13 KCNV2 KCTD7 KIAA1549 KIF3B KIF7 KIZ KLHL7 LAMA1 LCA5 LRAT LRIT3 LRP5 LZTFL1 MAK MAPKAPK3 MERTK MFN2 MFRP MFSD8 MIR204 MKKS MKS1 MMACHC MVK MYO7A NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NYX OAT OFD1 OPA1 OPA3 OPN1LW OTX2 PANK2 PAX6 PCARE PCDH15 PDE6A PDE6B PDE6C PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PITPNM3 PNPLA6 POC5 PPP2R3C PPP2R5E PPT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RAB28 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RS1 SAG SCAPER SDCCAG8 SEMA4A SIX6 SLC24A1 SLC6A6 SLC7A14 SNRNP200 SPATA7 STX3 TCTN1 TCTN2 TEAD1 TIMM8A TIMP3 TLCD3B TMEM126A TMEM138 TMEM216 TMEM237 TMEM67 TOPORS TPP1 TRAPPC3 TREX1 TRIM32 TRPM1 TSPAN12 TTC21B TTC8 TUB TUBGCP4 TUBGCP6 TULP1 TYR UNC119 USH1C USH1G USH2A VPS13B WDPCP WDR19 WFS1 WHRN ZNF408 ZNF513
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Corneal Diseases Panel

Corneal Diseases Panel

Genes Analisados: ADAMTS18 AGBL1 ARL2 CFD CHRDL1 CHST6 COL8A2 CRIM1 DCN GRHL2 KERA KRT12... Ver mais KRT3 LTBP2 NLRP1 OVOL2 PIKFYVE PITX2 PLCB3 PRDM5 PXDN SLC16A12 SLC4A11 TACSTD2 TGFBI UBIAD1 ZEB1 ZNF469
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Hereditary Deafness Panel (Expanded)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais different forms of syndromic and non-syndromic deafness of genetic etiology.

Genes Analisados: ACTB ACTG1 ADGRV1 ATP6V0A4 ATP6V1B1 BCS1L BSND CATSPER2 CCDC50 CDH23 CEACAM16 CEMIP... Ver mais CLDN14 CLRN1 COCH COL11A2 COL9A2 COL9A3 CRYM DIAPH1 DSPP ECE1 EDNRA EDNRB ERCC2 ERCC3 ESPN ESRRB EYA4 FAS FGF3 FGFR3 GATA3 GIPC3 GJA1 GJB1 GJB2 GJB3 GJB4 GJB6 GPSM2 GRHL2 GRXCR1 GSDME HGF ILDR1 JAG1 KCNJ10 KCNQ1 KCNQ4 LHFPL5 LHX3 LOXHD1 LRTOMT MARVELD2 MITF MSRB3 MTAP MYH14 MYH9 MYO15A MYO3A MYO6 MYO7A MYOC NDP NR2F1 OTOA OTOF PAX3 PCDH15 PDZD7 PJVK PMP22 POU3F4 POU4F3 PRPS1 PTPRQ RDX SERPINB6 SIX1 SIX5 SLC17A8 SLC26A4 SLC26A5 SLC4A11 SMPX SNAI2 SOX2 SPINK5 STRC TBL1X TECTA TIMM8A TJP2 TMC1 TMIE TMPRSS3 TPRN TRIOBP USH1C USH1G USH2A WFS1 WHRN
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Deafness Panel (GJB2 & GJB6)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of GJB2 (Connexin 2... Ver mais6 or Cx26) and GJB6 (Connexin 30) genes, more frequently associated to hereditary deafness.

Genes Analisados: GJB2 GJB6
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Short Stature Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 67 genes which m... Ver maisay result in different forms of short stature.

Genes Analisados: ACAN ADAMTS10 ANKRD11 ATR BRAF CBL CCDC8 CDC6 CDT1 CENPJ CEP152 CEP63... Ver mais CHD7 COL10A1 COL2A1 COL9A1 COL9A2 COMP CREBBP CUL7 FBN1 FGF8 FGFR1 FGFR3 GH1 GHR GHRHR GLI2 GLI3 GNAS HESX1 HRAS IGF1 IGF1R IGF2 IGFALS IHH KRAS LHX3 LHX4 MAP2K1 NPPC NPR2 NRAS OBSL1 ORC1 ORC4 ORC6 OTX2 PAPSS2 PCNT PITX2 POU1F1 PRKAR1A PROP1 PTH1R PTPN11 RAF1 RBBP8 SHOC2 SHOX SOS1 SOX3 SOX9 SRCAP STAT5B XRCC4
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Neonatal Endocrinopathies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 24 genes related... Ver mais to Neonatal Diabetes, Hyperinsulinemic Hypoglycemia, Congenital Hypothyroidism, Congenital Pituitary Deficiency, Congenital Adrenal Hyperplasia, Congenital Adrenal Hypoplasia. All the panel diseases are potentially treatable if diagnosed early. NOTE – Gene CYP21A2 is not included in the panel.

Genes Analisados: ABCC8 CYP11B1 CYP17A1 DUOXA2 GCK GLIS3 GLUD1 HADH INSR IYD KCNJ11 LHX4... Ver mais NR0B1 PAX8 POU1F1 PROP1 SLC16A1 SLC2A2 SLC5A5 TG THRA THRB TPO TSHB
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Pheochromocytoma and Paraganglioma Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 10 genes related... Ver mais to hereditary susceptibility for pheochromocytoma and paraganglioma.

Genes Analisados: MAX NF1 RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127 VHL
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Male Infertility Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes a... Ver maisssociated to male infertility. The analysis includes CFTR gene, which is associated to deferent duct agenesis. Note: Deletions in the AZF region of chromosome Y and chromosomal changes which may be associated to male infertility are not evaluated in this panel.

Genes Analisados: AK7 ARMC2 AURKC CATSPER1 CATSPER2 CDC14A CEP19 CFAP251 CFAP43 CFAP44 CFAP69 CFTR... Ver mais DNAH1 DNAH6 DPY19L2 FANCM FSIP2 KLHL10 MEIOB NANOS1 NR5A1 PMFBP1 QRICH2 SLC26A8 SOHLH1 SOX8 SPATA16 SPINK2 SUN5 SYCP3 TDRD9 TEX11 TEX14 TEX15 TSGA10 USP9Y XRCC2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Monogenic Diabetes Panel (MODY)

This NGS panel of Monogenic Diabetes (Maturity-Onset Diabetes of the Young - MODY) performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of... Ver mais copies (CNV) through next generation sequencing (NGS) of genes related to this condition.

Genes Analisados: ABCC8 APPL1 CEL EIF2AK3 GATA6 GCK HNF1A HNF1B HNF4A INS KCNJ11 KLF11... Ver mais NEUROD1 NEUROG3 PDX1 PLAGL1 PTF1A RFX6 SH2B1 SLC19A2 SLC2A2 WFS1 ZFP57
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Endocrine Neoplasia Expanded Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with the predisposition to thyroid cancer and other endocrine neoplasias, including MEN1 and RET genes (MEN2A).

Genes Analisados: AIP AKT1 APC ARMC5 ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1... Ver mais CDH1 CDH23 CDK4 CDKN1B CDKN2A CHEK2 DICER1 EGFR EPCAM FANCC FANCM FH FLCN GPR101 IPMK KIF1B MAX MEN1 MET MLH1 MSH2 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PRKAR1A PTEN RAD51C RAD51D RECQL RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SMARCA4 STK11 TMEM127 TP53 VHL
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Endocrine Neoplasia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with the hereditary predisposition to thyroid cancer and other endocrine neoplasias, including MEN1 and RET genes (MEN2A), the most frequently related to endocrine neoplasias.

Genes Analisados: APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 DICER1 EGFR EPCAM FANCC FANCM FH FLCN IPMK MEN1 MET MLH1 MSH2 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D RECQL RET STK11 TP53 VHL
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Congenital Adrenal Hyperplasia, CYP21A2 Deficiency (Seq. + MLPA)

This exam sequences the CPY21A2 gene by Sanger Sequencing, in addition to the identification of microdeletions or microduplications by MLPA, enabling the diagnosis of individuals with s... Ver maisuspected Congenital Adrenal Hyperplasia. This syndrome is caused by a deficiency of steroidogenic enzymes such as 21-hydroxylase. Between 90-95% of the cases are caused by alterations in the CPY21A2 gene (6p21.3).

Saiba Mais
Tempo estimado de entrega do resultado:
60 dias

Tuberous Sclerosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of TSC1 (Tuberous S... Ver maisclerosis type 1) and TSC2 (Tuberous Sclerosis type 2) genes.

Genes Analisados: TSC1 TSC2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Spinocerebellar Ataxias Expansions (SCA1, SCA2, SCA3, SCA6)

This test investigates the presence of nucleotide expansions in SCA1, SCA2, SCA3 and SCA6 genes for the diagnosis of individuals with clinical specific suspicion of spinocerebellar atax... Ver maisias types 1, 2, 3 and 6. The spinocerebellar ataxias (SCA) are part of a clinical and genetically heterogeneous group of more than 30 autosomal dominant cerebellar ataxias. Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. Other genes associated withother spinocerebellar ataxias, such as SCA7, SCA10, SCA12, SCA17, ATN1, among others, are not included in this test.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Spinocerebellar Ataxia Type 3 – Machado-Joseph (ATXN3/SCA3 expansion)

This ATXN3 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 3 (SCA3), also know as Machado-Joseph disease. The SCA3 is par... Ver maist of a clinical and genetically heterogenous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA3 is caused by the abnormal increase (expansion) of ‘CAG’ trinucleotide in ATXN3 gene. This segment normally presents between 12 and 44 ‘CAG’ repetitions. In people with SCA3, the ‘CAG’ segment presents between 60 and 87 repetitions.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Spinocerebellar Ataxia Type 6 (CACNA1A/SCA6 expansion)

This CACNA1A gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 6 (SCA6). The SCA6 is part of a clinical and genetically het... Ver maiserogeneous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA6 is caused by the abnormal expansion of trinucleotide ‘CAG’ in CACNA1A gene. This segment normally presents less than 19 repetitions. In people with spinocerebellar ataxia type 6, the segment presents between 20 and 33 ‘CAG’ repetitions.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Spinocerebellar Ataxia Type 7 (ATXN7/SCA7 expansion)

This ATXN7 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 7 (SCA7). The SCA7 is part of a clinical and genetically heter... Ver maisogeneous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA7 is caused by the expansion (abnormal increase) of trinucleotide ‘CAG’ in ATXN7 gene. This segment normally presents less than 19 repetitions. In people with spinocerebellar ataxia type 6, the ‘CAG’ segment presents between 37 and 460 repetitions.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Spinal Muscular Atrophy (post-MLPA SMN1 NGS sequencing)

This test conducts the sequencing of SMN1 gene. The test allows the diagnosis of patients with suspected Progressive Spinal Atrophy (PSA), also known as Spinal Muscular Atrophy (SMA).... Ver mais This test is recommended for patients who have already previously conducted the MLPA test. PSA is a neurodegenerative disease characterized by the loss of motor neurons leading to weakness and muscular atrophy. Variants in SMN1 gene cause the disease. Around 95% of the patients with PSA are carriers of deletion which comprises the two copies of exon 7 of SMN1 gene (maternal and paternal copies). Around 5% of the people with the disease, are carriers of microdeletion of exon 7 in one of the copies of the gene and in the other copy are carriers of changes detected only in sequencing tests (indels and substitutions) of SMN1 gene.

Genes Analisados: SMN1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Spinocerebellar Ataxia Type 10 (ATXN10/SCA10 expansion)

This ATXN10 gene expansion test allows the diagnosis of individuals with clinical suspicion of spinocerebellar ataxia type 10 (SCA10). The SCA10 is part of a clinical and genetically h... Ver maiseterogenous group of more than 30 autosomal dominant cerebellar ataxias (SCA). Ataxia (lack of movement coordination) is common to all the SCAs, but other symptoms and the disease manifestation starting age may vary. SCA10 is associated with the abnormal increase (expansion) of ‘ATTCT’ pentanucleotide in the intronic region of ATXN10 gene. This segment normally contains between 9 and 32 ‘ATTCT’ repetitions. In people with SCA10, the ‘ATTCT’ segment presents from 800 to more than 4,000 repetitions.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Rett Syndrome

This test performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of copies (CNV) through next generation sequencing (NGS) of MECP2 gene. The... Ver mais test allows the diagnosis of patients with suspected Rett syndrome. The Rett syndrome is a neurological disease that particularly affects the female gender, caused by changes to MECP2 gene, located in the long arm of chromosome X. Variants detected only in MECP2 gene sequencing test (point mutations) are identified in 90-95% of the individuals affected by the syndrome.

Genes Analisados: MECP2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Rett Syndrome (MECP2 MLPA)

This MLPA test identifies microdeletions or microduplications in MECP2 gene and allows the diagnosis of individuals with clinical suspicion of Rett syndrome. The Rett syndrome is a neu... Ver maisrological disease which particularly affects the female gender, causes changes in MECP2 gene, located in chromosome X. Variants detected only in MECP2 gene sequencing test (point mutations) are identified in 90% of the individuals affected by the syndrome. The gene microdeletions may also cause the disease and the MLPA test can be requested in case of negative result in the sequencing test.

Genes Analisados: MECP2
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Spastic Paraplegia and Amyotrophic Lateral Sclerosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 60 genes associa... Ver maisted with the superior motor neuron diseases such as amyotrophic lateral sclerosis and hereditary spastic paraplegias. This test does not include the C9orf72 gene expansion investigation.

Genes Analisados: ABCD1 ALS2 ANG AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARG1 ATL1 BSCL2 C12ORF65... Ver mais CHMP2B CYP7B1 DYNC1H1 ERBB4 ERLIN2 FA2H FIG4 FUS GARS1 GJC2 HSPB1 HSPB8 HSPD1 IGHMBP2 KIF1A KIF5A L1CAM MATR3 NEK1 NIPA1 OPTN PARK7 PFN1 PLP1 PNPLA6 REEP1 RNF170 RTN2 SACS SETX SIGMAR1 SLC33A1 SOD1 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 TARDBP TBK1 TP73 TRPV4 UBQLN2 VAPB VCP WASHC5 ZFYVE26
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Neurofibromatosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of NF1 (Neurofibrom... Ver maisatosis type 1), NF2 (Neurofibromatosis type 2) and SPRED1 (Legius Syndrome) genes.

Genes Analisados: NF1 NF2 SPRED1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Neuropathy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 104 genes associ... Ver maisated to different peripheral neuropathies, including different forms of Charcot-Marie-Tooth disease, sensitive-autonomic neuropathies, erythromelalgias and congenital insensitivity to pain. The panel also includes familial amyloidosis genes and distal spinal muscular atrophy (forms not related to SMN1/SMN2).

Genes Analisados: AAAS AARS1 ABHD12 AIFM1 AP1S1 ATL1 ATL3 ATP1A1 ATP7A BSCL2 C12orf65 CCT5... Ver mais COA7 COX6A1 CTDP1 DCAF8 DHH DHTKD1 DMXL2 DNAJB2 DNM2 DNMT1 DST DYNC1H1 EGR2 ELP1 EXOC4 FBLN5 FGD4 FIG4 GAN GARS1 GBE1 GDAP1 GJB1 GNB4 GSN HARS1 HINT1 HK1 HSPB1 HSPB8 IARS2 IGHMBP2 INF2 JPH1 KARS1 KIF1A KIF1B KLC2 LITAF LMNA LRSAM1 MARS1 MCM3AP MED25 MFN2 MORC2 MPZ MTMR2 MYH14 NAGLU NDRG1 NEFH NEFL NGF OPA1 PDK3 PLEKHG5 PMP22 POLG PRDM12 PRPS1 PRX RAB7A RETREG1 RNF170 SBF1 SBF2 SCN10A SCN11A SCN9A SCO2 SCP2 SH3TC2 SIGMAR1 SLC12A6 SLC25A46 SNAP29 SOX10 SPG11 SPTBN4 SPTLC1 SPTLC2 SURF1 TBCE TDP1 TFG TRIM2 TRPV4 TTR VCP WNK1 YARS1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Myotonic Dystrophy Type I – Steinert (DMPK expansion)

The test of DMPK gene expansion allows the diagnosis of individuals with clinical suspicion of myotonic dystrophy type I – Steinert (DM type I). The myotonic dystrophy type I is a di... Ver maissease which causes weakness and progressive muscular atrophy. The disease can also be accompanied by other symptoms including cataracts, hormone and cardiac changes. DM type I is caused by an abnormal expansion of trinucleotide ‘CTG’ in DMPK gene. This segment normally presents between 5 and 34 ‘CTG’ repetitions. In people with DM type I, the segment presents between 50 and 5,000 ‘CTG’ repetitions. Expansions in the intermediate range (36 to 50 CTG repetitions), known as “pre-mutation”, do not cause the disease, however, there"s a risk for the carrier’s children because there can be an increase in the number of ‘CTG’ repetitions in the following generation.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Myotonic Dystrophy Type II (CNBP expansion)

The test of CNBP gene expansion allows the diagnosis of individuals with clinical suspicion of myotonic dystrophy type II. The disease is characterized by myopathy, muscular weakness... Ver mais and other signs which include cardiac changes, cataracts and diabetes mellitus, among others. The DM type II is caused by the presence of abnormal expansion of tetranucleotide ‘CCTG’ in intron 1 of CNBP gene. This segment normally presents between 11 and 26 repetitions. In people with DM type II, the segment presents between 75 and 11,000 copies of ‘CCTG’.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Muscular Dystrophy, Myopathy and Myasthenia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes c... Ver maisausing neuromuscular diseases. Different forms of congenital myopathy, muscular dystrophy and congenital myasthenias are included in this panel.

Genes Analisados: ACTA1 AGRN ANO5 B3GALNT2 B4GAT1 BAG3 BIN1 CAPN3 CAV3 CFL2 CHAT CHKB... Ver mais CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB DAG1 DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM1 DPM3 DYSF EMD FHL1 FKRP FKTN FLNC GAA GFPT1 GMPPB GNE HNRNPA1 HNRNPA2B1 IGHMBP2 ITGA7 KBTBD13 LAMA2 LARGE1 LDB3 LMNA MAGEL2 MATR3 MTM1 MUSK MYH7 MYL2 MYOT NEB ORAI1 PABPN1 PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM RAPSN RXYLT1 RYR1 SELENON SGCA SGCB SGCD SGCG SQSTM1 STIM1 TCAP TGFB1 TIA1 TK2 TNNT1 TPM2 TPM3 TRIM32 TTN VCP VMA21 YARS2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Leukodystrophies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 139 genes which... Ver mais cause changes to the white substance of the central nervous system, including Adrenoleukodystrophy, Canavan disease, Vanishing White Matter and peroxisomal diseases such as Refsum and Zellweger.

Genes Analisados: AARS2 ABCD1 ACOX1 ADAR AIMP1 ALDH3A2 ARSA ASPA ATP7A ATP7B ATPAF2 BCAP31... Ver mais BCS1L CLCN2 COL4A1 COQ2 COQ8A COQ9 COX10 COX15 CSF1R CYP27A1 CYP2U1 CYP7B1 D2HGDH DARS1 DARS2 DGUOK EARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ERCC2 ERCC3 ERCC6 ERCC8 ETFDH FA2H FAM126A FUCA1 GALC GBE1 GFAP GFM1 GJA1 GJC2 GLA GLB1 GM2A GTF2H5 HEPACAM HEXA HEXB HSD17B4 HSPD1 HTRA1 L2HGDH LAMA2 LMNB1 MCOLN1 MLC1 MPLKIP MRPS16 MTFMT NDUFAF1 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NOTCH3 NPC1 NPC2 OCLN OCRL PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHGDH PHYH PLP1 POLG POLG2 POLR3A POLR3B PPT1 PRF1 PSAP PSAT1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RRM2B SAMHD1 SCO1 SCP2 SDHA SDHAF1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPART SPAST SPG11 SPG21 SPG7 STX11 STXBP2 SUCLA2 SUMF1 SURF1 TACO1 TREX1 TUBB4A TUFM TWNK TYMP TYROBP UNC13D ZFYVE26
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MLPA for DMD

This MLPA test identifies microdeletions or microduplications in DMD gene and allows the diagnosis of individuals with clinical suspicion of Duchenne muscular dystrophy. The Duchenne... Ver mais muscular dystrophy is a X-linked genetic disease with recessive inheritance, affecting especially men. The disease is characterized by weakness and progressive muscular loss (atrophy) and dilated cardiomyopathy. More than 5,000 variants in DMD gene were identified in people with Duchenne muscular dystrophy. Microdeletions or microduplications comprising DMD exons cause most of the disease cases (65-80%). Variants detected only in DMD gene sequencing test (point mutations) are identified in 20-35% of the individuals affected by the syndrome.

Genes Analisados: DMD
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

MLPA for Spinal Muscular Amyotrophy (SMA)

This MLPA test identifies microdeletions or microduplications in exons 7 and 8 of SMN1 and SMN2 genes and allows the diagnosis of individuals with clinical suspicion of Progressive Spin... Ver maisal Atrophy (PSA), also known as Spinal Muscular Atrophy (SMA) PSA is a neurodegenerative disease characterized by the loss of motor neurons leading to weakness and muscular atrophy. Pathogenic variants in SMN1 gene cause the disease. Around 95% of the patients with PSA are carriers of microdeletion which comprises the two copies of exon 7 of SMN1 gene (maternal and paternal copies). Around 5% of the people with the disease, are carriers of microdeletion of exon 7 in one of the copies of the gene and in the other copy are carriers of changes detected only in sequencing tests (point mutations) of SMN1 gene. The number of copies of SMN2 gene is significantly variable in the population and the identification of this number in patients with PSA is also important to determine the severity of the disease and the starting age, once the gene, along with SMN1, modulates the phenotype of these patients.

Genes Analisados: SMN1 SMN2
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Hereditary Amyloidosis

This test conducts the sequencing and evaluation of the number of copies (CNV) of TTR gene through the NGS technique. The test allows the diagnosis of patients with suspected transthyre... Ver maistin-associated familial amyloidotic polyneuropathy (FAP). The FAP or Paramyloidosis is a condition with autosomal dominant inheritance, slowly progressive, characterized by the accumulation of abnormal deposits of a protein called amyloid (amyloidosis) in different organs and tissues of the body. When the condition results from mutations in the transthyretin gene (TTR), it’s also called transthyretin-related amyloidosis or simply TTR amyloidosis. More than 150 variants in TTR are associated with FAP, being Val50Met or V50M, the most frequent of them. Variants detected only in the TTR gene sequencing test (point mutations) are identified in more than 99% of the individuals affected by the syndrome.

Genes Analisados: TTR
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Huntington’s Disease (HTT expansion)

This HTT gene expansion test allows the diagnosis of individuals with clinical suspicion of Huntington disease. The Huntington disease is a neurodegenerative disease which causes motor... Ver mais, cognitive and psychiatric changes. The symptoms start in the adult age, generally between 35 and 44 years old. The Huntington disease is caused by the abnormal expansion of trinucleotide ‘CAG’ in HTT gene. This segment normally presents 35 or less ‘CAG’ repetitions. In people with Huntington disease, the "CAG" segment contains more than 35 ‘CAG’ repetitions. Individuals with 27 to 35 ‘CAG’ repetitions do not develop Huntington, but are at risk of having children affected by the disease. Note: this test is indicated for symptomatic patients (with clinical manifestation). For minors, the conduction of the test will be subject to analysis by our medical team.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Kennedy Disease (AR expansion)

This AR gene expansion test allows the diagnosis of individuals with clinical suspicion of Kennedy disease. The Kennedy disease, also called spinal and bulbar muscular atrophy, is a ne... Ver maisurodegenerative disease which affects motor neurons. The affected individuals present muscular weakness and atrophy. The Kennedy disease is caused by the abnormal expansion of ‘CAG’ trinucleotides in AR gene, located in chromosome X. This segment normally presents between 5 and 34 ‘CAG’ repetitions. In people with Kennedy disease, the segment contains more than 35 ‘CAG’ repetitions. The syndrome prevalently affects males.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Fragile-X Syndrome (FMR1 expansion)

The molecular test of FMR1 gene allows the diagnosis of individuals with clinical suspicion of X-Fragile syndrome (XFS), the main genetic cause of intellectual disability after Down syn... Ver maisdrome. The XFS is caused by the abnormal expansion of trinucleotide ‘CGG’ in FMR1 gene, located in chromosome X, and particularly affects male individuals. This segment normally presents between 5 and 44 ‘CGG’ repetitions. In people with X-Fragile Syndrome, the ‘CGG’ segment presents more than 200 repetitions. Individuals with 55 to 200 ‘CAG’ repetitions, called “pre-mutation” do not develop the X-Fragile Syndrome, but women with expansions in this range are at risk of having children with the disease.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Friedreich’s ataxia (FXN expansion)

This FXN gene expansion test allows the diagnosis of individuals with clinical suspicion of Friedreich ataxia. Friedreich ataxia is a disease which affects the nervous system and cause... Ver maiss ataxia before 25 years old. The disease is caused by the abnormal increase (expansion) of trinucleotides ‘GAA" in intron 1 of FXN gene. This segment normally contains between 5 and 33 ‘GAA’ repetitions. In people with Friedreich ataxia, the ‘GAA’ segment presents between 66 and 1,000 repetitions. On very rare ocasions (< 3% of the cases), variants in the FXN codifying region and detectable in sequencing tests may also cause the disease.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Early-Onset Neuromuscular Disorders Panel

Painel PTC

Genes Analisados: AARS2 ACADVL ACTA1 ACTN2 ADSS1 AGRN ALG14 ALG2 AMPD1 ANO5 ASAH1 ASCC1... Ver mais ATP2A1 ATP7A ATPAF2 B3GALNT2 B4GAT1 BAG3 BCS1L BICD2 BIN1 BVES CACNA1S CAPN3 CASQ1 CAV3 CCDC78 CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CLHC1 CNTN1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COQ8A CPNE6 CPT2 CRPPA CRYAB DAG1 DDC DES DMD DNAJB2 DNAJB6 DNM2 DOK7 DPAGT1 DPM1 DPM2 DPM3 DYNC1H1 DYSF EMD ETFA ETFB ETFDH FAM111B FDX2 FHL1 FKBP14 FKRP FKTN FLAD1 FLNC FXR1 GAA GBE1 GFER GFPT1 GGPS1 GMPPB GNE GOSR2 GYG1 GYS1 HACD1 HADHA HNRNPA1 HNRNPA2B1 HNRNPDL HSPB8 IGHMBP2 INPP5K ISCU ITGA7 JAG2 KBTBD13 KCND2 KCNJ2 KIF22 KLHL40 KLHL41 KLHL9 KY LAMA2 LAMA5 LAMB2 LAMP2 LARGE1 LDB3 LIMS2 LMNA LMOD3 LPIN1 LRP4 MAGEL2 MAP3K20 MATR3 MEGF10 MICU1 MRPS34 MSTO1 MTM1 MUSK MYBPC1 MYF6 MYH2 MYH7 MYL1 MYL2 MYO18B MYO9A MYOD1 MYOT MYPN NDUFS4 NEB OPA1 ORAI1 PAX7 PDSS1 PDSS2 PLEC PLEKHG5 PNPLA2 PNPLA8 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPP2R3C PREPL PUS1 PYGL PYROXD1 RAPSN RBCK1 RBM7 RXYLT1 RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SIGMAR1 SIL1 SLC18A3 SLC22A5 SLC25A1 SLC25A20 SLC52A2 SLC52A3 SLC5A7 SMN1 SNAP25 SPEG SPTBN4 SQSTM1 STAC3 STIM1 SURF1 SVIL SYNE1 SYNE2 SYT2 TAZ TCAP TEFM TIA1 TIMM22 TK2 TMEM43 TNNC2 TNNT1 TNNT3 TNPO3 TOR1AIP1 TPM2 TPM3 TRAPPC11 TRDN TRIM32 TRIP4 TRPV4 TTN UBA1 UNC45B VAMP1 VAPB VCP VMA21 VWA1 XK YARS2 ZBTB20
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Early-onset Neurodevelopmental and Movement Disorders Panel

Painel de Distúrbios do Movimento

Genes Analisados: AARS2 ABAT ACTL6B ADCY5 ALDH5A1 ALDH7A1 ALG13 AP3B2 ARHGEF9 ARX ATP1A2 ATP1A3... Ver mais ATP7A ATP8A2 BCAP31 CACNA1A CACNA1B CDKL5 DDC DDX3X DEAF1 DHDDS DHX30 DNAJC12 FOLR1 FOXG1 FRRS1L GABRA1 GABRA2 GABRB3 GABRG2 GAMT GATM GBA GCDH GCH1 GNAO1 GNB2 GRIA4 GRIN1 GRIN2B GRIN2D HPRT1 IQSEC2 IREB2 IRF2BPL KCNA2 KCNMA1 KCNT1 KCNT2 MECP2 MEF2C NACC1 NGLY1 NKX2-1 NPC1 NPC2 PCBD1 PDE10A PDE2A PLPBP PNKD PNPO POLG PRRT2 PTS PURA QDPR SLC13A5 SLC16A2 SLC18A2 SLC1A2 SLC2A1 SLC30A10 SLC6A1 SLC6A3 SPR SPTAN1 SYT1 TBC1D24 TBL1XR1 TELO2 TH TPP1 UBA5 VAMP2 WARS2 WDR45 WWOX ZNF142 ZSWIM6
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

Expanded Epilepsy Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes associated... Ver mais with conditions including epilepsy, notedly epileptic encephalopaties and epilepsies of difficult control with drugs, as the main symptom, including Dravet syndrome, ceroid lipofuscinosis, tuberous sclerosis, non-ketotic hyperglycinemia and several other diseases.

Genes Analisados: AARS1 ACER3 ADAM22 ADGRV1 ADRA2B ADSL AIMP2 ALDH7A1 ALG13 AMT AP3B2 ARHGEF9... Ver mais ARV1 ARX ASAH1 ATP13A2 ATP1A2 ATP6V1A ATP7A ATP8A2 BRAF BRAT1 BSCL2 CACNA1A CACNA1D CACNA1E CACNB4 CAMK2A CASK CASR CCDC88A CDK5 CDKL5 CERS1 CHD2 CHRNA2 CHRNA4 CHRNB2 CILK1 CLCN2 CLDN5 CLN3 CLN5 CLN6 CLN8 CLTC CNNM2 CNPY3 CNTN2 CNTNAP2 CPA6 CPLX1 CSTB CTSD CYFIP2 DCX DDC DEAF1 DENND5A DEPDC5 DHDDS DIAPH1 DIP2A DLAT DNAJC5 DNM1 DOCK7 EEF1A2 EIF2S3 EMX2 EPM2A EXT2 FOLR1 FOXG1 FRRS1L GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB1 GABRB2 GABRB3 GABRG2 GAMT GATM GBA GCSH GLDC GNAO1 GOSR2 GPAA1 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GRN HACE1 HCN1 HECW2 HEXA HEXB HNRNPU IER3IP1 IQSEC2 ITPA KANSL1 KATNB1 KCNA1 KCNA2 KCNB1 KCNC1 KCNJ10 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KCTD17 KCTD3 KCTD7 LAMB1 LGI1 LIAS LMNB2 MBD5 MDH2 MECP2 MED17 MEF2C MFSD8 MOCS1 MOCS2 NACC1 NDE1 NECAP1 NHLRC1 NPC1 NPC2 NPRL2 NPRL3 NR4A2 NRXN1 NTRK2 NUS1 OTUD6B PACS2 PAFAH1B1 PCDH12 PCDH19 PDHA1 PDHX PDP1 PIGA PIGC PIGN PIGP PIGT PLAA PLCB1 PLPBP PNKP PNPO POLG POLG2 PPP3CA PPT1 PRDM8 PRICKLE1 PRICKLE2 PRRT2 PTPN23 QARS1 RAB11A RBFOX1 RELN RHOBTB2 ROGDI RORB RPH3A RTN4IP1 RTTN SARS1 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SGCE SHH SIX3 SLC12A5 SLC13A5 SLC25A22 SLC2A1 SLC35A3 SLC45A1 SLC6A1 SLC6A8 SLC6A9 SLC9A6 SMC1A SMS SNAP25 SNIP1 SPATA5 SPTAN1 SRPX2 ST3GAL3 ST3GAL5 STRADA STX1B STXBP1 SUOX SYN1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBCD TCF4 TMTC3 TPP1 TRIO TSC1 TSC2 TUBA1A UBA5 UBE3A UFC1 UFM1 VARS1 VRK2 WASF1 WDR45B WWOX YWHAG ZEB2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Dementia and Parkinson’s Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 60 genes involve... Ver maisd in early and/or familial forms of Alzheimer’s Disease, Frontotemporal Dementia, Parkinson’s Disease and Alexander Disease. This test does not include the C9orf72 gene expansion investigation, which must be conducted separately.

Genes Analisados: ABCD1 APP ARSA ATP13A2 ATP1A3 ATP7B CHMP2B CSF1R CYP27A1 DCTN1 DNAJC6 EIF4G1... Ver mais FBXO7 FUS GALC GBA GCH1 GFAP GLA GRN HEXA HTRA2 ITM2B LMNB1 LRRK2 MAPT NOTCH3 NPC1 NPC2 PANK2 PARK7 PINK1 PLA2G6 PNKD POLG PPT1 PRKN PRKRA PRNP PRRT2 PSAP PSEN1 PSEN2 SGCE SLC2A1 SLC6A3 SNCA SPG11 SPR SQSTM1 TARDBP TH THAP1 TOR1A TREM2 TYROBP UBQLN2 UCHL1 VCP VPS35
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Dystonia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the main genes... Ver mais causing dystonias, including genes associated to Dopa-Responsive Dystonia, DYT1, and several others.

Genes Analisados: ADCY5 ANO3 ARG1 ARSA ATM ATP1A3 ATP7B CACNA1B COL6A3 CP GCDH GCH1... Ver mais GNAL HPRT1 KCNMA1 KCTD17 MRE11 PANK2 PCNA PLA2G6 PNKD PRKN PRKRA PRRT2 RELN SGCE SLC2A1 SLC6A3 SPR TAF1 TH THAP1 TIMM8A TOR1A TUBB4A WDR45
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

CADASIL

This test conducts the sequencing and evaluation of the number of copies (CNV) of NOTCH3 gene through the NGS technique. The test allows the diagnosis of patients with suspected cerebra... Ver maisl arteriopathy, a disease known as CADASIL. CADASIL is a neurogenetic disease caused by pathogenic variants in NOTCH3 gene. It’s clinically characterized by recurrent ischemic attacks, headache, progressive cognitive decline and psychiatric disorders. More than 270 variants in NOTCH3 have already been associated to CADASIL. Variants detected only in NOTCH3 gene sequencing test (point mutations) are identified in more than 95% of the affected individuals.

Genes Analisados: NOTCH3
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Charcot-Marie-Tooth Type 1A and HNPP (MLPA for PMP22)

This MLPA test indentifies microdeletions or microduplications in PMP22 gene and allows the diagnosis of individuals with clinical suspicion of Charcot-Marie-Tooth type 1A (CMT type 1A)... Ver mais and HNPP – hereditary neuropathy with pressure palsy. The Charcot-Marie-Tooth disease is the most frequent hereditary peripheral neuropathy in the population. There are several disease subtypes. Changes in PMP22 gene are responsible for ~ 70-80% of all the CMT type 1 cases. This form of disease, also called CMT type 1A, is caused mainly by a microduplication of ~1.5 Mb in the short arm of chromosome 17, including PMP22 gene. The microdeletion of the same segment of ~ 1.5 Mb causes another disease, the hereditary neuropathy with pressure palsy (HNPP). Microdeletion is present in approximately 80% of the affected individuals; and the other 20% are carriers of changes in PMP22 gene detectable only in the sequencing test.

Genes Analisados: PMP22
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Ataxia Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais recessive and dominant forms of ataxia. This panel includes the investigation for Ataxia-Teleangiectasia, Ataxia with Oculomotor Apraxia, among others. It’s important to emphasize that this test sequences the gene codifying regions of the panel and does not test the presence of expansion which are the main cause of many autosomal dominant inheritance ataxias with onset in the adult age (SCA1, SCA2, SCA3, SCA6, SCA7, SCA10, SCA12, DRPLA, or others). For this reason, for cases of dominant ataxias of onset in the adult age, the test must be preceded by the Expansion Ataxia Panel. It also does not evaluate the expansion in FXN gene generally associated with Friedreich ataxia.

Genes Analisados: ABHD12 ACO2 AFG3L2 ANO10 APOB APTX ATCAY ATM ATP8A2 BEAN1 CACNA1A CACNA1G... Ver mais CACNB4 CCDC88C CLCN2 CLN5 COQ2 COQ8A CYP27A1 DDC DNMT1 EBF3 ELOVL4 FGF14 FLVCR1 FXN GOSR2 GRM1 ITPR1 KCNA1 KCNC3 KCND3 KCNJ10 KIF1A LAGE3 LAMA1 MRE11 MTTP NPC1 NPC2 NUP107 NUP133 OSGEP PCNA PDSS1 PDSS2 PDYN PEX7 PHYH PMPCA PNKP PNPLA6 POLG PRKCG PRNP PTF1A RUBCN SACS SCN2A SETX SIL1 SLC1A3 SLC2A1 SPG7 SPTBN2 SYNE1 SYT14 TDP1 TGM6 TP53RK TPP1 TPRKB TTBK2 TTPA TWNK TXN2 VLDLR WDR4 WDR73 WFS1 WWOX
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Autism Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 42 genes which w... Ver maisere previously associated to the Autism Spectrum Disorder (ASD).

Genes Analisados: ADNP ANKRD11 ARID1B ASH1L AUTS2 CAMK2A CHD2 CHD8 DDX3X DYRK1A EHMT1 FOXP1... Ver mais GRIA1 GRIN2B HNRNPH2 KMT2A KMT2C KMT5B MBD5 MECP2 MED12 NAA15 NEXMIF NLGN3 NLGN4X PACS1 POGZ PPM1D PTCHD1 PTEN RPL10 SCN2A SETD2 SHANK1 SHANK2 SYN1 SYNGAP1 TBL1XR1 TBR1 TRIO TRIP12 UBE3A
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

C9orf72 Gene Expansion

This C9orf72 gene expansion test allows the diagnosis of individuals with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), of early onset or with familial recurren... Ver maisce. The ALS is a progressive disease that affects the motor neurons, specialized cells that control the muscular movement and are found in the spinal cord and in the brain. In ALS, the motor neurons die (atrophy) over time, leading to muscular weakness, loss of muscular mass and inability to control the movement. One of the familial ALS forms is caused by the abnormal increase of hexanucleotide ‘GGGGCC’ expansion in C9orf72 gene. This segment normaly presents less than 25 repetitions. In people with ALS associated withC9orf72 gene, the "GGGGCC’ segment presents more than 60 ‘GGGGCC’ repetitions. Around 20% of the patients with ALS caused by the expansion of C9orf72 gene may also develop frontotemporal dementia (FTD), progressive cerebral disorder which affects the personality, the behavior and the language. It’s important to emphasize that other genes also cause familial ALS (SOD1, TARDBP, FUS among others).

Genes Analisados: C9orf72
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Array

The SNP-array test simultaneously investigate thousands of regions in the human genome to identify variations in the number of copies (CNV; Copy Number Variations). The CNV covers delet... Ver maisions (loss) or duplications (gains) which may affect one or more genes and even large chromosomal segments. The microarray can diagnose patients with suspected microdeletion and microduplication syndromes and is recommended to clarify several clinical suspicions of unknown cause, including intellectual disability and congenital malformations. The high density SNP-array provides the following advantages: - High resolution for CNV identification. - Increased coverage in dosage-sensitive genes. - Detection of mosaic changes and absence of heterozygosity (AOH).

Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

BRCA1 MLPA

This MLPA test identifies microdeletions or microduplications in BRCA1 gene. The test is indicated for patients with suspected hereditary breast and ovary cancer. Heterozygous pathoge... Ver maisnic variants in BRCA1 significantly increase the risk of developing breast cancer (risk of 46% to 87%) and ovary cancer. Variants detected only in BRCA1 gene sequencing test (point mutations) are identified in >80% of the cases. Microdeletions or microduplications are responsible for around 10% of the cases. BRCA1 gene variants can also indicate predisposition to other types of hereditary tumors including prostate and pancreatic cancers.

Genes Analisados: BRCA1
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

ATM MLPA

This MLPA test identifies microdeletions or microduplications in ATM gene and allows the diagnosis of individuals with clinical suspicion of ataxia-telangiectasia or hereditary cancer.... Ver mais Ataxia-telangiectasia is a disease which affects the nervous system, the immune system and other body systems. Pathogenic variants in both copies of ATM gene cause the disease. Variants in a single copy predispose to breast cancer and other types of cancer. Variants detected only in ATM gene sequencing test (point mutations) are identified in 90% of the cases. Microdeletions or microduplications are responsible for around 1-2% of the cases.

Genes Analisados: ATM
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

APC MLPA

This MLPA test identifies microdeletions or microduplications in APC gene. The test is indicated for individuals with clinical suspicion of familial adenomatous polyposis (FAP). FAP is... Ver mais caused by the presence of heterozygous pathogenic variants in the APC gene and is characterized by the presence of multiple adenomatous polyps in the entire gastrointestinal tract, particularly in the colon. Variants detected only in APC gene sequencing test (point mutations) are identified in 90% of the individuals affected by the disease. The microdeletions or microduplications, are responsible for the remaining cases.

Genes Analisados: APC
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

CDK4 MLPA

This MLPA test identifies microdeletions or microduplications in CDK4 gene. The test is indicated for individuals with clinical suspicion of malignant cutaneous melanoma. Pathogenic va... Ver maisriants in hetorozygosis in CDK4 gene, mostly in point mutations detected by gene sequencing, are associated withpredisposition to malignant cutaneous melanoma.

Genes Analisados: CDK4
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

CDH1 MLPA

This MLPA test identifies microdeletions or microduplications in CDH1 gene. The test is indicated for individuals with clinical suspicion of hereditary diffuse gastric cancer (CDH1) and... Ver mais hereditary breast cancer. Heterozygous pathogenic variants in CDH1 predispose to diffuse gastric cancer. Most of the variants in CDH1 are only detected in CDH1 gene sequencing test (point mutations). Microdeletions or microduplications are responsible for around 4% of the cases. Changes in CDH1 gene also cause predisposition to breast cancer.

Genes Analisados: CDH1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

BRIP1 MLPA

This MLPA test identifies microdeletions or microduplications in BRIP1 gene. The test is indicated for individuals with clinical suspicion of hereditary breast cancer. Heterozygous pat... Ver maishogenic variants in BRIP1 gene may predispose to the development of breast cancer. Variants detected only in BRIP1 gene sequencing test (point mutations) are more frequently identified in individuals affected by the disease. Microdeletions or microduplications are responsible for a minority of the cases.

Genes Analisados: BRIP1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

BRCA2 MLPA

This MLPA test identifies microdeletions or microduplications in BRCA2 gene. The test is indicated for patients with clinical suspicion of hereditary breast and ovary cancer. Heterozy... Ver maisgous pathogenic variants in BRCA2 gene significantly increase the risk of developing breast cancer (risk of 38% to 84%) and ovary cancer. Variants detected only in BRCA2 gene sequencing test (point mutations) are identified in >80% of the cases. Microdeletions or microduplications are responsible for around 10% of the cases. BRCA2 gene changes can also indicate predisposition to other types of hereditary tumors including prostate and pancreatic cancers and melanoma.

Genes Analisados: BRCA2
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

CHEK2 MLPA

This MLPA test identifies microdeletions or microduplications in CHEK2 gene (Checkpoint Kinase 2). The test is indicated for patients with clinical suspicion of hereditary cancer. Het... Ver maiserozygous pathogenic variants in CHEK2 gene may predispose to different types of tumors, notedly breast and prostate cancers.

Genes Analisados: CHEK2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

CDKN2A MLPA

This MLPA test identifies microdeletions or microduplications in CDKN2A gene. The test is indicated for individuals with clinical suspicion of familial malignant cutaneous melanoma. He... Ver maisterozygous pathogenic variants in CDKN2A gene, mostly point mutations, are associated withfamilial forms of malignant cutaneous melanoma. They may also cause increased risk for other types of cancer.

Genes Analisados: CDKN2A
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Hereditary Cancer Panel (Complete)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 264 genes relate... Ver maisd to hereditary cancer, including rarer forms such as hereditary melanoma, pheochromocytoma, Von Hippel Lindau disease, paraganglioma, cylindromatosis, Birt-Hogg-Dubé syndrome, Carney complex, xeroderma pigmentosum, rhabdoid teratoid tumor, hereditary leiomyomatosis syndrome and renal cancer, multiple osteochondromatosis (multiple exostosis), among others.

Genes Analisados: ACD AIP AKT1 ALK ANKRD26 APC ARMC5 ASCL1 ASXL1 ATM ATP4A ATR... Ver mais AXIN2 BAP1 BARD1 BDNF BLM BMPR1A BPGM BRAF BRCA1 BRCA2 BRIP1 BUB1B CABLES1 CASP10 CASP9 CBL CD70 CDC73 CDH1 CDH23 CDK12 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CEP57 CHEK1 CHEK2 CREBBP CSF3R CTC1 CTNNA1 CTNNB1 CTR9 CYLD DDB2 DDX41 DICER1 DIS3L2 DKC1 DLST DNAJC21 DNMT3B DOCK8 EDN3 EFL1 EGFR EGLN1 EGLN2 EPAS1 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ETV6 EXT1 EXT2 EZH2 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FBXW7 FGFR1 FH FIBP FLCN FOXE1 G6PC1 GALNT12 GATA1 GATA2 GLMN GNAS GPC3 HCLS1 HIF3A HNF1A HNF1B HOXB13 HRAS IPMK JAG1 JAK2 KDM1A KDM3B KIF1B KIT KLLN KRAS LAPTM5 LDAH LIG4 LZTR1 MAD2L2 MAGT1 MAP2K1 MAP2K2 MAP3K1 MAX MCM4 MDH2 MEN1 MET MITF MLH1 MLH3 MMP1 MNX1 MRE11 MSH2 MSH3 MSH6 MSR1 MTAP MUTYH MYCN NBN NF1 NF2 NHP2 NME1 NOP10 NRAS NSD1 NTHL1 NTRK1 NYNRIN OS9 PALB2 PARN PAX5 PBRM1 PDGFB PDGFRA PDGFRB PHOX2B PIK3CA PMS2 POLD1 POLE POLH POT1 PPP2R2A PPP2R3B PRF1 PRKAR1A PSMC3IP PTCH1 PTCH2 PTEN PTPN11 RABL3 RAD50 RAD51 RAD51B RAD51C RAD51D RAD54L RAF1 RASA2 RASAL1 RB1 RBBP6 RECQL RECQL4 RET RFWD3 RHBDF2 RMI2 RNASEL RNF139 RNF43 RPS20 RRAS RSPO1 RTEL1 RUNX1 SAMD9 SAMD9L SASH1 SBDS SDHA SDHAF2 SDHB SDHC SDHD SEC23B SETBP1 SH2B3 SH2D1A SHOC2 SLC25A11 SLX4 SMAD4 SMARCA4 SMARCAD1 SMARCB1 SMARCE1 SOS1 SPRTN SRP54 SRP72 STAT3 STK11 SUFU TERC TERF2IP TERT TET2 TEX15 TGFBR2 THSD1 TINF2 TMC6 TMC8 TMEM127 TOP3A TP53 TPCN2 TRIM28 TRIP13 TSC1 TSC2 UBE2T USP8 VHL WAS WIPF1 WRAP53 WRN WT1 WWOX XIAP XPA XPC XRCC2 ZNF687
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Hereditary Cancer Panel (Main Genes)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais the most common form of hereditary predisposition to cancer, including breast, ovary, endometrium, intestine/colorectal (polypoid and non-polypoid forms), prostate, gastric, multiple endocrine neoplasia (MEN1), pancreas, Li-Fraumeni Syndrome, among others.

Genes Analisados: APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A... Ver mais CHEK2 EGFR EPCAM FANCC FANCM MEN1 MET MLH1 MSH2 MSH3 MSH6 MUTYH NBN NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD51C RAD51D RECQL RET STK11 TP53
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

MLH1 MLPA

This MLPA test identifies microdeletions or microduplications in MLH1 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in MLH1 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Most of the variants in MLH1 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only 5-10% of the cases. Changes to the MLH1 may also increase the risk for other types of cancer.

Genes Analisados: MLH1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MET MLPA

This MLPA test identifies microdeletions or microduplications in MET gene. This test is indicated for patients with suspected hereditary cancer. Heterozygous pathogenic variants in MET... Ver mais gene, mostly of point mutation which are detected by gene sequencing, predispose to some hereditary cancer forms, particularly papillary carcinoma of renal cells.

Genes Analisados: MET
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MEN1 MLPA

This MLPA test identifies microdeletions or microduplications in MEN1 gene. The test is indicated for patients with clinical suspicion of multiple endocrine neoplasia type 1. Heterozyg... Ver maisous pathogenic variants in MEN1 gene are associated with multiple endocrine neoplasia type 1. Most of the variants in MEN1 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only 1-4% of the cases.

Genes Analisados: MEN1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MSH6 MLPA

This MLPA test identifies microdeletions or microduplications in MSH6 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in MSH6 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). The vast majority of the variants in MSH6 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for only <5% of the cases. Changes to the MSH6 may also increase the risk for other types of cancer.

Genes Analisados: MSH6
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MSH2 MLPA

This MLPA test identifies microdeletions or microduplications in MSH2 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in MSH2 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Most of the variants in MSH2 are only detected in the gene sequencing test (point mutations). Microdeletions or microduplications are responsible for around 20% of the cases. Changes to the MSH2 may also increase the risk for other types of cancer.

Genes Analisados: MSH2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MLPA for BAP1

This MLPA test identifies microdeletions or microduplications in BAP1 gene and allows the diagnosis of individuals with clinical suspicion of BAP1-associated tumor predisposition syndro... Ver maisme. Clinically relevant variants in BAP1 gene cause a tumor predisposition syndrome which increases the risk of some types of tumors, including uveal melanoma, malignant mesotelioma, cutaneous melanomas, basal cell carcinomas and renal cell carcinoma.

Genes Analisados: BAP1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

MUTYH MLPA

This MLPA test identifies microdeletions or microduplications in MUTYH gene. The test is indicated for individuals with clinical suspicion of familial adenomatous polyposis (FAP). The... Ver mais familial adenomatous polyposis is characterized by the presence of multiple adenomatous polyps in the entire gastrointestinal tract, particularly in the colon. The MUTYH is one of the genes which causes the disease. Variants detected only in MUTYH gene sequencing test (point mutations) are identified in 99% of the individuals affected by the disease. Microdeletions or microduplications in the gene are rare.

Genes Analisados: MUTYH
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

PMS2 MLPA

This MLPA test identifies microdeletions or microduplications in PMS2 gene. The test is indicated for individuals with suspected Lynch syndrome and other types of hereditary cancer. He... Ver maisterozygous pathogenic variants in PMS2 gene cause Lynch syndrome, also known as hereditary non-polypoid colorectal cancer (HNPCC). Rearrangements involving PMS2 gene are responsible for part of the cases.

Genes Analisados: PMS2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

PALB2 MLPA

This MLPA test identifies microdeletions or microduplications in PALB2 gene. The test is indicated for patients with clinical suspicion of hereditary breast and ovary cancer. Heterozyg... Ver maisous pathogenic variants in PALB2 gene are associated with predisposition, particularly to breast cancer.

Genes Analisados: PALB2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Meningioma Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of the most importa... Ver maisnt genes associated withhereditary susceptibility to Meningioma.

Genes Analisados: ARMC5 BAP1 LZTR1 PDGFB PTEN SMARCB1 SMARCE1 SUFU
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Prostate Cancer Panel (HRR)

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 20 genes related... Ver mais to hereditary prostate cancer.

Genes Analisados: ATM BARD1 BRCA1 BRCA2 BRIP1 CDK12 CHEK1 CHEK2 EPCAM FANCL MLH1 MSH2... Ver mais MSH6 PALB2 PMS2 RAD51B RAD51C RAD51D RAD54L TP53
Saiba Mais
Tempo estimado de entrega do resultado:
30 dias

PTEN MLPA

This MLPA test identifies microdeletions or microduplications in PTEN gene. The test is indicated for individuals with clinical suspicion of PTEN gen-related conditions (Cowden syndrome... Ver mais, Bannayan-Riley-Ruvalcaba syndrome, autism-microcephaly syndrome, Proteus syndrome, among others) Heterozygous pathogenic variants in PTEN gene may cause a broad clinical spectrum, from predisposition to hereditary cancer to conditions such as developmental delay, autism and macrocephaly. Most of the variants in PTEN gene are only detected in the PTEN gene sequencing test (point mutations). Microdeletions or microduplications in the AR gene are responsible for a up to 10% of the cases.

Genes Analisados: PTEN
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

RET MLPA

This MLPA test identifies microdeletions or microduplications in RET gene (Ret Proto-oncogene) and allows the diagnosis of individuals with clinical suspicion of hereditary multiple end... Ver maisocrine neoplasia type 2 (MEN2), medullary thyroid carcinoma and pheochromocytoma. Variants detected only in RET gene sequencing test (point mutations) are more frequently detected in affected individuals.

Genes Analisados: RET
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

RB1 MLPA

This MLPA test identifies microdeletions or microduplications in RB1 gene. The test allows the diagnosis of patients with suspected hereditary Retinoblastoma. Retinoblastoma is a mali... Ver maisgnant tumor which develops in the retina, generally before five years old. The gene which causes the disease is RB1, a tumor suppressor gene, which regulates the cell growth. Genetic variants detected only in RB1 gene sequencing test (point mutations) are identified in 80% of the individuals affected by hereditary retinoblastoma. Microdeletions or microduplications (CNV) in the gen are responsible for up to 20% of the cases.

Genes Analisados: RB1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

TP53 MLPA

This MLPA test identifies microdeletions or microduplications in TP53 gene. The test is indicated for patients with suspected Li-Fraumeni syndrome or other forms of hereditary cancer.... Ver mais TP53 gene is a tumor suppressor gene which regulates the cell growth. Heterozygous pathogenic variants in TP53 gene cause Li-Fraumeni syndrome, with predisposition to a number of types of cancers, particularly adrenocortical carcinoma, breast cancer, central nervous system tumors, osteosarcomas and soft tissue sarcomas. Genetic variants detected only in TP53 gene sequencing test (point mutations) are identified in 90% of the cases. Microdeletions or microduplications (CNV) in the gene are responsible for around 1% of the cases.

Genes Analisados: TP53
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

STK11 MLPA

This MLPA test identifies microdeletions or microduplications in STK11 gene and allows the diagnosis of individuals with clinical suspicion of Peutz-Jeghers Syndrome (PJS). The Peutz-J... Ver maiseghers Syndrome (PJS) is characterized by gastrointestinal polyposis, cutaneous mucosal pigmentation and predisposition to cancer. Pathogenic variants in heterozygosis in STK11 gene cause the syndrome. Variants detected only in STK11 gene sequencing test (point mutations) are identified in 81% of the individuals affected by the syndrome. Microdeletions or microduplications (CNV) in the gene are responsible for 15% of the cases.

Genes Analisados: STK11
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

SDHB MLPA

This MLPA test identifies microdeletions or microduplications in SDHB gene. The test is indicated for individuals with clinical suspicion of hereditary paraganglioma-pheochromocytoma (P... Ver maisGL/PHEO) syndrome and other diseases related to SDHB. Variants in SDHB gene are associated withPGL/PHEO and to the increased predisposition to non-syndromic paraganglioma, Cowden syndrome, Gastrointestinal stromal tumor and other related cancers.

Genes Analisados: SDHB
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

WT1 MLPA

This MLPA test identifies microdeletions or microduplications in WT1 gene and allows the diagnosis of individuals with clinical suspicion of Wilms tumor and related diseases, resulting... Ver mais from variations in the number of copies (CNV) involving this gene. Heterozygous pathogenic variants in WT1 gene occur with an increase risk for Wilms tumor and may further occur with Denys-Drash, Frasier, Meacham syndromes and nephrotic syndrome type 4.

Genes Analisados: WT1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Wolf-Hirschhorn Syndrome (4p16 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 4p16 and allows the diagnosis of individuals with clinical suspicion of Wolf-Hirschhorn syndrome. The Wolf-Hirsc... Ver maishhorn syndrome is characterized by growth and developmental delay, intellectual disability, seizures and typical facial appearance. It’s caused by the terminal deletion of the short arm of chromosome 4, in region p.16. The deletion size ranges between the affected individuals, being that larger deletions trend to result in intellectual impairment and physical anomalies more severe than that in minor deletions. The typical signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes.

Genes Analisados: LETM1 MSX1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Williams Syndrome (7q11.23 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 7p11.23 and allows the diagnosis of individuals with clinical suspicion of Williams syndrome. The Williams syndr... Ver maisome is characterized by intellectual disability, characteristic personality, cardiovascular problems, among others. It’s caused by the microdeletion of the long arm of chromosome 7, in region q11.23. The deleted region includes 26 to 28 genes, and the loss of several of these genes contributes to the characteristics of such disease. CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes are among the genes which are normally deleted in individuals with Williams syndrome.

Genes Analisados: CLIP2 ELN GTF2I GTF2IRD1 LIMK1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

WAGR Syndrome (11p13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 11p13 and allows the diagnosis of individuals with clinical suspicion of WAGR syndrome. The WAGR syndrome is par... Ver maisticularly characterized by increased risk of developing Wilms tumor, aniridia (absence of iris), genitourinary anomalies and intellectual disability. The WAGR syndrome is caused by a deletion in the short arm of chromosome 11 in region p13. The deletion size ranges between the affected individuals and influences the signs an symptoms of WAGR syndrome, which are related to the lost genes. The most commonly deleted genes are PAX6, responsible for the ocular characteristics of the syndrome and WT1, responsible for Wilms tumor.

Genes Analisados: PAX6 WT1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Sotos Syndrome (5q35 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 5q35 and allows the diagnosis of individuals with clinical suspicion of Sotos syndrome. The Sotos syndrome is mo... Ver maisre frequently caused by point mutations in NSD1 gene, located in the long arm of chromosome 5, in region q35, however, in part of the patients it results from the microdeletion of 1.9 Mb, in 5q35 region, comprising NSD1 gene, particularly identified in patients of Japanese descent.

Genes Analisados: NSD1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Skeletal Diseases Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 321 genes relate... Ver maisd to a number of skeletal system diseases, including Imperfect Osteogenesis, Achondroplasia, Acrodysostosis, Blomstrand Syndrome, Caffey Syndrome, Desbuquois Syndrome, Klippel-Feil Syndrome, Meier-Gorlin Syndrome, Osteopetrosis and Stickler Syndrome, among others.

Genes Analisados: ABL1 ACAN ACP5 ACVR1 ADAMTSL2 AGA AGPS ALPL ALX1 ALX3 ALX4 AMER1... Ver mais ANKH ANO5 ARCN1 ARSB ARSL ASCC1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BGN BHLHA9 BMP1 BMP2 BMPER BMPR1B BPNT2 C12ORF57 CA2 CANT1 CASR CCDC8 CCN6 CDC45 CDC6 CDKN1C CDT1 CEP120 CHST11 CHST14 CHST3 CHSY1 CILK1 CLCN5 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREB3L1 CRTAP CSGALNACT1 CTSA CTSK CUL7 CYP26B1 CYP27B1 CYP2R1 DDR2 DDX58 DHCR24 DHODH DIP2C DLL3 DLX3 DLX5 DMP1 DSE DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EDNRA EFNB1 EFTUD2 EHHADH EIF2AK3 EIF4A3 ENPP1 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 FAM111A FAM20B FAM20C FAM98C FBLN1 FBN1 FERMT3 FGF16 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FKBP14 FLNA FLNB FN1 FNDC3B FUCA1 FZD2 GALNS GDF3 GDF5 GDF6 GJA1 GLB1 GLI1 GLI3 GMNN GNAS GNPAT GNPTAB GNPTG GNS GORAB GPC6 GPX4 GUSB GZF1 HDAC4 HDAC6 HES7 HGSNAT HNF4A HNRNPA1 HNRNPA2B1 HOXA11 HOXA13 HOXD13 HPGD HSPG2 IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH INPPL1 INTU IQCE KAT6B KIAA0586 KIF22 KYNU LBR LEMD3 LFNG LIFR LMNA LMX1B LONP1 LRP4 LRP5 LTBP3 MAFB MAN2B1 MAP3K20 MAP3K7 MATN3 MBTPS1 MBTPS2 MCM3 MCM5 MCM7 MECOM MEOX1 MESP2 MMP13 MMP2 MMP9 MNX1 MSX2 MYH3 MYO18B MYT1 NAGLU NANS NEK1 NEU1 NIN NKX3-2 NOG NOTCH2 NPR2 NSDHL NT5E NUDT6 OBSL1 ORC1 ORC4 ORC6 OSTM1 P3H1 P4HB PAM16 PAPSS2 PCGF2 PCNT PCYT1A PDE4D PEX5 PEX7 PHEX PIK3C2A PLEKHM1 PLOD1 PLOD2 PLS3 POLR1A POP1 POR PPIB PPP3CA PRG4 PRKAR1A PTDSS1 PTH1R PTHLH PTPN11 PYCR1 RAB33B RBBP8 RECQL4 RIN1 RIPPLY2 RMRP RNU4ATAC ROR2 RSPO2 RSPRY1 RUNX2 SBDS SEC23A SEC24D SERPINF1 SERPINH1 SF3B4 SFRP4 SGSH SH3PXD2B SHOX SIK3 SLC10A7 SLC17A5 SLC26A2 SLC29A3 SLC34A1 SLC34A3 SLC35D1 SLC39A13 SLCO5A1 SMAD4 SMARCAL1 SNRPB SNX10 SOST SOX9 SP7 SPARC SQSTM1 SUCO SULF1 SUMF1 TBCE TBX15 TBX3 TBX4 TBX6 TBXAS1 TCIRG1 TENT5A TGDS TGFB1 TMCO1 TMEM256 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TONSL TRAPPC2 TREM2 TRIP11 TRIP4 TRPS1 TRPV4 TTC21B TYROBP UNC45A VCP VDR WDR19 WDR35 WNT1 WNT10B WNT3 WNT5A WNT7A XYLT1 XYLT2 ZBTB16 ZMPSTE24 ZNF141 ZNF687 ZSWIM6
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Smith-Magenis Syndrome (17p11 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 17p11 and allows the diagnosis of individuals with clinical suspicion of Smith-Magenis syndrome. The Smith-Magen... Ver maisis syndrome is characterized by intellectual disability, distinct facial characteristics, sleep disorders and behavioral problems, among others. Usually, the Smith-Magenis syndrome results from the deletion of a small part of the short arm of chromosome 17 in position p11.2 which comprises multiple genes, including RAI1. The deleted segment generally (~70% of the cases) includes 3.7 megabases (Mb). Occasionally, the deletion is larger or smaller.

Genes Analisados: RAI1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Rubinstein-Taybi Syndrome (16p13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 16p13 and allows the diagnosis of individuals with clinical suspicion of Rubinstein-Taybi syndrome (RTS). The RT... Ver maisS is characterized by post-natal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and great toes, developmental delay, among others. The RTS results more frequently from mutations in gen CREBBP, however, in some of the individuals it may be caused by a microdeletion in the short arm of chromosome 16, in region p13.3. A number of genes, including CREBBP gene, are absent as a result of such deletion.

Genes Analisados: CREBBP
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Russell-Silver Syndrome (11p15 region methylation)

The methylation study of region 11p15 allows the diagnosis of individuals with clinical suspicion of Russel-Silver Syndrome (RSS). The RSS is a genetic disease of intrauterine and pos... Ver maist-natal growth restriction, resulting from changes to the regulation of genes that control growth. This test detects the main known cause of RSS: methylation changes to the short arm of chromosome 11 (in 11p15), region which includes H19 and IGF2 genes, this being the cause of 35-50% of the cases. The maternal uniparental disomy of chromosome 7, not investigated in this test, is responsible for other 7-10% of the RSS cases. The disease cause remains unknown in up to 40% of the patients.

Genes Analisados: IGF2
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Saethre-Chotzen Syndrome (7q21 region MLPA or TWIST1 MLPA)

This MLPA test identifies microdeletions or microduplications in region 7p21 and allows the diagnosis of individuals with clinical suspicion of Saethre-Chotzen syndrome. The Saethre-Ch... Ver maisotzen syndrome is characterized by the early fusion of cranial sutures (craniosynostosis) and other characteristic physical signs. Usually, the Saethre-Chotzen syndrome is caused by point mutations in TWIST1 gene only detectable in the sequencing test. However, in some cases, it can be caused by a microdeletion in the short arm of chromosome 7, in region p21 where TWIST1 gene is located.

Genes Analisados: TWIST1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Phelan-McDermid Syndrome (22q13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 22q13 and allows the diagnosis of individuals with clinical suspicion Phelan-McDermid syndrome. The Phelan-McDer... Ver maismid syndrome is characterized by developmental delay, hypotonia, intellectual disability, among others. The syndrome is caused by a terminal deletion of the long arm of chromosome 22 in region q13.3. The signs and symptoms of the syndrome are probably related to the loss of multiple genes in this region. The deletion size ranges between the affected individuals. The deletion of SHANK3 gene is most likely the cause of the main neurological characteristics associated with the syndrome. The deletion of other genes may cause more complex phenotypes in patients holding larger deletions.

Genes Analisados: SHANK3
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Noonan Syndrome and Rasopathies Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 21 genes related... Ver mais to different rasopathies, including Noonan syndrome, Cardio-Facio-Cutaneous syndrome and Costello syndrome.

Genes Analisados: A2ML1 BRAF CBL HRAS KRAS LZTR1 MAP2K1 MAP2K2 NF1 NRAS PPP1CB PTPN11... Ver mais RAF1 RASA1 RASA2 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Miller-Dieker Syndrome (17p13 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 17p13 and allows the diagnosis of individuals with clinical suspicion Miller-Dieker syndrome. The Miller-Dieker... Ver mais syndrome is characterized by an abnormal brain development standard known as lissencephaly, developmental delay, seizures, among other symptoms. The syndrome is caused by the loss of the distal region of the short arm of chromosome 17, in region 7p13. The size of the deletion ranges between the affected individuals. The signs and symptoms of the Miller-Dieker syndrome are related to the loss of multiple genes in this region, particularly PAFAH1B1 and YWHAE genes.

Genes Analisados: PAFAH1B1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Marfan Syndrome

This test performs the complete sequencing (exons and flanking intronic regions) and evaluation of the number of copies (CNV) through next generation sequencing (NGS) of FBN1 gene. The... Ver mais test allows the diagnosis of patients with suspected Marfan syndrome. Marfan syndrome is a connective tissue disease which causes eye, cardiovascular and skeletal changens. The gene which causes the syndrome is FBN1. Variants detected only in FBN1 gene sequencing test (point mutations) are identified in 90-93% of the affected individuals. Microdeletions and microduplications partially of fully comprising the gene cause the rest of the disease cases.

Genes Analisados: FBN1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Langer-Giedion Syndrome (8q24 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 8q24 and allows the diagnosis of individuals with clinical suspicion of langer-Giedion syndrome, also known as tr... Ver maisichorhinophalangeal syndrome type 2 (STRF II). STRF II is a rare genetic syndrome associated to distinct facial characteristics and bone abnormalities. It is caused by deletion in the long arm of chromosome 8 (8q24). The signs and symptoms of STRF II are related to the loss of multiple genes in chromosome 8, particularly TRPS1, EXT1 and RAD21 genes.

Genes Analisados: EXT1 RAD21 TRPS1
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Day One – Genomic Newborn Screening

This test evaluates more than 340 genes that can cause rare, but treatable early-onset diseases. This panel includes analysis of rare diseases from various classes such as Inborn Errors... Ver mais of Metabolism, Neurological, Immunological, Hematological, Endocrine, Kidney, Hepatic, Gastrointestinal and Skeletal Diseases. The panel is recommended for preventive screening of rare diseases in asymptomatic babies.

Genes Analisados: ABCB11 ABCB4 ABCC8 ABCD1 ABCD4 ABCG5 ABCG8 ACAD8 ACADM ACADVL ACAT1 ADA... Ver mais ADAMTS13 AGL AICDA AK2 AKR1D1 ALDH7A1 ALDOA ALDOB ALPL AMACR APOA5 APOC2 AQP2 ARG1 ARSA ARSB ASL ASS1 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATP8B1 AVPR2 BAAT BCKDHA BCKDHB BCKDK BCL10 BLNK BSND BTD BTK CAD CARD11 CASR CD247 CD320 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B CDCA8 CFTR CIC CIITA CLCNKA CLCNKB CLDN16 CLDN19 COL1A1 COL1A2 CORO1A CPS1 CPT1A CPT2 CTNS CTPS1 CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP11B2 CYP17A1 CYP27A1 CYP27B1 CYP2R1 CYP7A1 CYP7B1 DBT DCLRE1C DDC DGAT1 DHFR DLD DMD DNAJC12 DNAJC21 DOCK2 DUOX2 DUOXA2 EFL1 ELANE ETFA ETFB ETFDH ETHE1 F8 F9 FAH FBP1 FCHO1 FGA FLAD1 FOLR1 FOXE1 FOXN1 FOXP3 G6PC1 G6PC3 GAA GALE GALK1 GALM GALNS GALT GAMT GATA2 GATM GBA GBE1 GBP1 GCDH GCH1 GCK GFI1 GGCX GJB2 GJB6 GLIS3 GLRA1 GLRB GLUD1 GOT2 GPIHBP1 GUSB GYS1 GYS2 HADH HADHA HADHB HAX1 HBB HCFC1 HESX1 HLCS HMGCL HMGCS2 HPD HSD3B2 HSD3B7 HYOU1 IDS IDUA IFNGR1 IFNGR2 IGLL1 IGSF1 IKBKB IL12B IL12RB1 IL2RA IL2RG IL7R INS INSR IRF8 IRS4 IVD IYD JAGN1 JAK3 KCNJ1 KCNJ11 LAT LCK LCT LHX3 LHX4 LIPA LMBRD1 LMF1 LPL MAGT1 MALT1 MAN2B1 MAP3K14 MC2R MCEE MMAA MMAB MMACHC MMADHC MMUT MOCS1 MPI MPL MPO MRAP MTHFR MTR MTRR MTTP MYD88 MYH9 NAGS NCF2 NCF4 NEUROG3 NHEJ1 NKX2-1 NKX2-5 NNT NR0B1 ORAI1 OTC OTX2 OXCT1 PAH PAX8 PCBD1 PCCA PCCB PCK1 PDXK PGM1 PHEX PHGDH PHKA2 PHKB PHKG2 PIK3R1 PLPBP PNP PNPO POU1F1 PRF1 PRKDC PROP1 PSAT1 PSPH PTPRC PTS PYGL QDPR RAC2 RAG1 RAG2 RASGRP1 RB1 RFX5 RFXANK RFXAP RORC SAMD9 SBDS SCNN1A SCNN1B SCNN1G SH2D1A SI SLC12A1 SLC16A1 SLC19A1 SLC19A2 SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC26A3 SLC26A4 SLC26A7 SLC27A5 SLC2A1 SLC2A2 SLC37A4 SLC39A4 SLC46A1 SLC52A2 SLC52A3 SLC5A1 SLC5A5 SLC5A6 SLC6A5 SLC6A6 SLC7A7 SLC7A9 SMN1 SORD SOX3 SPR SRP54 STAR STAT1 STX11 STXBP2 TANGO2 TAP1 TAP2 TAPBP TAT TBL1X TCN2 TFRC TG TH THAP11 THRA TJP2 TK2 TPK1 TPO TPP1 TRH TRHR TRPM6 TSHB TSHR TTPA TUBB1 UGT1A1 UNC13D UNG UROS USP53 VDR VKORC1 VPS45 WAS WIPF1 XIAP ZAP70 ZNF143
Saiba Mais
Tempo estimado de entrega do resultado:
21 dias

Ehlers-Danlos and Cutis Laxa Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 34 genes associa... Ver maisted to different forms of Ehlers-Danlos and cutis laxa syndromes.

Genes Analisados: ADAMTS2 AEBP1 ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT7 CHST14 COL1A1... Ver mais COL1A2 COL3A1 COL5A1 COL5A2 EFEMP2 ELN FBLN5 FKBP14 FLNA GORAB GZF1 HRAS KIF22 LTBP4 PIK3R1 PLOD1 PPP1CB PYCR1 RIN2 SLC2A10 SLC39A13 TNXB
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Cystic Fibrosis

This test conducts the sequencing and evaluation of the number of copies (CNV) of CFTR gene through the NGS technique. The test allows the diagnosis of patients with suspected cystic fi... Ver maisbrosis. The cystic fibrosis (CF) is a disease characterized by progressive pulmonary change, exocrine pancreatic dysfunction and high electrolyte concentration in sweat. Pathogenic variants in both copies of CFTR gene cause the disease. More than 1,000 variants in CFTR gene which cause the disease have already been identified, deltaF508 being the most common mutation, which leads to the deletion of an amino acid in position 508 of the CFTR protein. Variants detected only in CFTR gene sequencing test (point mutations) are identified in 98% of the individuals affected by the disease. Microdeletions and microduplications in CFTR comprising one or more exons of the gene cause the rest of the cases.

Genes Analisados: CFTR
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Cri du Chat Syndrome (5p15 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 5p15 and allows the diagnosis of patients with clinical suspicion of Cri-du-Chat syndrome. The Cri du Chat syndr... Ver maisome is a microdeletion syndrome characterized by intellectual disability, developmental delay, typical facial changes, and presence of a characteristic crying in the early childhood which reminds a cat meow. The disease cause is the deletion of the short arm of chromosome 5 in region p15, detectable in the MLPA test.

Genes Analisados: CTNND2
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

Carrier Screening for Recessive Disorders

The Recessive Disease Mutation Carrier Screening identifies previously described and/or admittedly pathogenic mutations in 165 genes related to recessive autosomal diseases. The test mu... Ver maisst be preferably used by a clinical geneticist as a tool for the genetic counseling of couples at increased risk for this group of diseases. All the human genes are presented in pairs, because we inherit a maternal and a paternal copy. A part of the genetic diseases presents recessive autosomal inheritance, i.e., for the disease to manifest it"s necessary that the two gene copies (maternal and paternal) are changed. People who have only one copy of a mutated gene (maternal or paternal copy) will be carriers of the mutation, but will not manifest the disease. Genetic disease with recessive autosomal inheritance are more frequently observed in children of consanguineous couples (with a degree of relatedness), of certain ethnic groups with increased risk for specific genetic conditions (such as, for example, the Ashkenazi Jews), or people with family history of recessive autosomal genetic disease such as cystic fibrosis and sickle-cell anemia. This test allows the evaluation of any variant present in the coding region (exons and flanking introns) of the panel.

Genes Analisados: ABCC8 ACADM ACADVL ADA ADAMTS2 AGA AGL AGXT AIRE ALDH3A2 ALDOB ALG6... Ver mais ALMS1 ALPL AMT ARG1 ARSA ASL ASPA ASS1 ATM ATP7B BBS1 BBS10 BBS12 BBS2 BCKDHA BCKDHB BCS1L BLM BTD CAPN3 CFTR CLN3 CLN5 CLN6 CLN8 CLRN1 COL4A3 COL4A4 CPS1 CPT1A CPT2 CTNS CTSK CYP11B1 CYP27A1 DBT DHCR7 DHDDS DLD DYSF ELP1 ERCC6 ERCC8 EVC EVC2 F11 FAH FANCA FANCC FKRP FKTN G6PC1 GAA GALC GALK1 GALT GBA GCDH GJB2 GLB1 GLDC GNE GNPTAB GNPTG GRHPR HADHA HBB HEXA HEXB HGSNAT HLCS HMGCL HOGA1 HSD17B4 HYLS1 IDUA IVD KCNJ11 LAMA2 LAMA3 LAMB3 LAMC2 LIPA LRPPRC MAN2B1 MCOLN1 MESP2 MKS1 MLC1 MMAA MMAB MMACHC MMUT MPI MPL MTTP MYO7A NAGLU NBN NEB NPC1 NPC2 NPHS1 NPHS2 OPA3 PAH PC PCCA PCCB PCDH15 PEX1 PEX10 PEX12 PEX2 PEX6 PEX7 PHGDH PKHD1 PMM2 POMGNT1 PPT1 PROP1 PTS RTEL1 SACS SGCA SGCB SGCD SGCG SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC26A4 SLC35A3 SLC37A4 SMPD1 STAR SUMF1 TAT TCIRG1 TGM1 TH TMEM216 TPP1 TTPA USH1C USH2A VPS13B XPA XPC ZFYVE26
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Clinically Recognized Syndromes Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of genes related to... Ver mais the main genetic syndromes which phenotypes can be clinically recognizable. This test provides the clinical geneticist with a tool for the rapid molecular confirmation of common clinical diagnoses. The panel includes genes related to Adams-Oliver, Albinism, X-linked alpha-thalassemia/DI, Aniridia, Distal Arthrogryposis, Bardet-Biedl, CHARGE, Cockayne, Coffin-siris, Progeria and Progeroid Syndromes, Pseudohypoparathyroidism (Albright hereditary osteodystrophy), 3M Syndrome, Acrocallosal Syndrome, Aarskog Syndrome, Alagille Syndrome, Alstrom Syndrome, Bannayan-Riley-Ruvalcaba-Smith Syndrome, Baraitser-Winter Syndrome, Blepharophimosis Syndrome, Ptosis and Inverse Epicanthus (BPES), Bloom Syndrome, Bohring-Opitz Syndrome, Cantu Syndrome, Cohen Syndrome, Cornelia de Lange Syndrome, EEC Syndrome, Floating-Harbor Syndrome, Freeman-Sheldon Syndrome, Gorlin Syndrome, Holt Oram Syndrome, Johanson-Blizzard Syndrome, Kabuki Syndrome, Kleefstra Syndrome, Loyes-Dietz Syndrome, Lujan-Fryns Syndrome, Marfan Syndrome and other conditions associated to FBN1 gene, Marshall-Smith Syndrome, Miller Syndrome, Mowat-Wilson Syndrome, Myhre Syndrome, Nager Syndrome, Nicolaides-Baraitser Syndrome, Noonan Syndrome and other rasopathies, Opitz C Syndrome (Optiz Trigonocephaly), Opitz G/BBB Syndrome, Pitt-Hopkins Syndrome, Ritscher-Schinzel Syndrome (3C), Robinow Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS), Schinzel-Giedion Syndrome, Schwarz-Jampel Syndrome, Seckel Syndrome, Sheldon-Hall Syndrome, Shprintzen-Goldberg Syndrome, Simpson-Golabi Syndrome, Smith-Lemli-Opitz Syndrome, Sotos Syndrome, Townes-Brockes Syndrome, Treacher-Collins Syndrome, Nail-patella Syndrome, Van der Woude Syndrome, Waardenburg Syndrome, Weaver Syndrome, Wiedemann-Steiner Syndrome, Multiple pterygium syndrome, Duane-radial ray syndrome (Okihiro), FG Syndrome (Opitz-Kaveggia), KBG Syndrome, TAR Syndrome and Trichorhinophalangeal Syndrome.

Genes Analisados: A2ML1 ABCC9 ACTB ACTG1 ALMS1 ANKRD11 AP3B1 AP3D1 ARHGAP31 ARID1A ARID1B ARID2... Ver mais ARL6 ARL6IP1 ASXL1 ATR ATRX BANF1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BLM BLOC1S3 BLOC1S6 BRAF CBL CCDC65 CCDC8 CCDC88A CCDC88C CD96 CDC6 CDT1 CENPJ CEP152 CEP290 CEP63 CHD7 CHRNG CNTNAP2 CREBBP CUL7 DHCR7 DHODH DLL4 DOCK6 DTNBP1 DVL1 DVL3 EDN3 EDNRB EHMT1 ELP4 EOGT EP300 EPG5 ERCC6 ERCC6L2 ERCC8 EYA1 EZH2 FBN1 FBN2 FGD1 FOXL2 GATA3 GCM2 GLE1 GNAS GPC3 GPR143 GRHL3 HDAC8 HNF1A HNF1B HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HSPG2 IFT27 IRF6 JAG1 KAT6B KDM6A KIF7 KIFBP KIT KITLG KMT2A KMT2C KMT2D KRAS KRIT1 LMNA LMX1B LRMDA LYST LZTFL1 LZTR1 MAP2K1 MAP2K2 MATR3 MED12 MID1 MITF MKKS MKS1 MLPH MYBPC1 MYH3 MYH8 MYO5A NF1 NFIX NIN NIPBL NOTCH1 NOTCH2 NRAS NRXN1 NSD1 NSMCE2 OBSL1 OCA2 OFD1 ORC1 ORC4 ORC6 PAX3 PAX6 PHF6 PIEZO2 POLR1C POLR1D PPP1CB PSMC3IP PTCH1 PTCH2 PTEN PTH PTH1R PTHLH PTPN11 RAB27A RAD21 RAF1 RAI1 RASA1 RASA2 RBBP8 RBM8A RBPJ RECQL4 RIT1 RNF113A RNF125 RNF139 RNF168 RNF170 ROR2 RPS6KA3 RRAS SALL1 SALL4 SDCCAG8 SERPINF1 SETBP1 SF3B4 SHOC2 SIX5 SKI SKIV2L SLC24A5 SLC25A24 SLC45A2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SNAI2 SOS1 SOS2 SOX10 SPECC1L SPRED1 SRCAP STX16 SUFU TBCE TBX5 TCF4 TCOF1 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM67 TNNI2 TNNT3 TP63 TPM2 TRAIP TRIM32 TRIT1 TRPS1 TTC8 TYR TYROBP TYRP1 UBR1 VIPAS39 VKORC1 VPS13B VPS33B WASHC5 WDPCP WNT5A WRN ZEB2 ZMPSTE24 ZNF141 ZNF148
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Craniosynostosis Panel

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of 4 genes related... Ver mais to syndromic craniosynostosis, including Apert, Jackson-Weiss, Pfeiffer, Saethre-Chotzen and Crouzon Syndromes.

Genes Analisados: FGFR1 FGFR2 FGFR3 TWIST1
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Beckwith-Wiedemann Syndrome (11p15 region methylation)

The methylation study of region 11p15 allows the diagnosis of individuals with clinical suspicion of Beckwith-Wiedemann syndrome, being the methylation changes the main mechanism associ... Ver maisated to this syndrome. Around 50% of the cases result from methylation changes in the short arm of chromosome 11 (region 11p15), which includes CDKN1C, H19, IGF2, and KCNQ1OT1 genes. The paternal uniparental disomy of chromosome 11 is responsible for 10% of the disease cases. In case of negative result in the methylation test, the sequencing of CDKN1C gene is recommended, considering that approximately 5% of the cases of Beckwith-Wiedemann syndrome without family history, are caused by point mutations in this gene.

Genes Analisados: CDKN1C
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

CHARGE Syndrome

This NGS panel performs the complete sequencing (exons and flanking intronic regions) and copy number variation (CNV) analyses using next generation sequencing (NGS) of CHD7 gene. The t... Ver maisest allows the molecular diagnosis of patients with suspected CHARGE syndrome. Variants detected only in CHD7 gene sequencing test (point mutations) are identified in 90% of the affected individuals. Microdeletions or microduplications in the gene are rare.

Genes Analisados: CHD7
Saiba Mais
Tempo estimado de entrega do resultado:
45 dias

Angelman and Prader-Willi Syndrome (methylation)

The methylation study of region 15q11.2 is recommended for individuals with clinical suspicion of Prader-Willi (PWS) and Angelman (AS) syndromes. The Prader-Willi syndrome (PWS) is cha... Ver maisracterized by severe hypotonia during the first years of a child"s life, difficult feeding and developmental delay. Later, these individuals in general develop compulsive behavior concerning food. The Angelman syndrome (AS) is characterized by neuropsychomotor development delay, with significant impact to the language, intellectual disability, ataxia, seizures, stereotyped movements, among others. The two conditions are caused by changes to the long arm of chromosome 15 (in 15q11.2). Genes subject to a mechanism called genomic imprinting are located in this region. The methylation test is able to detect, respectively, 99% and 85%, of the Prader-Willy syndrome (PWS) and Angelman syndrome (AS) cases. Around 11% of the AS cases are caused by variants of UBE3A gene detected only by sequencing tests. For individuals with suspected Angelman syndrome, in case of negative result in the methylation test, the conduction of gene UBE3A sequencing is recommended.

Genes Analisados: UBE3A
Saiba Mais
Tempo estimado de entrega do resultado:
75 dias

1p36 Deletion Syndrome (1p36 region MLPA)

This MLPA test identifies microdeletions or microduplications in region 1p36 and allows the diagnosis of individuals with clinical suspicion of 1p36 deletion. The 1p36 monosomy is cons... Ver maisidered as being one of the most common chromosomal terminal deletions in the human species and may lead to developmental delay, intellectual disability, characteristic facial signs, among others.

Saiba Mais
Tempo estimado de entrega do resultado:
75 dias