A Mendelics | Mendelics

How we work

With a very well established infrastructure and processes, Mendelics has consolidated a quality management system focused on meeting international quality standards, audited on a yearly basis by nationally and internationally recognized entities.

Mission

To make genetic diagnosis fast, accurate, and accessible to everyone who needs it.

Vision

To be one of the main world references in genomic diagnosis and interpretation.

Values

Ethics, seriousness, honesty, reliability, commitment, dedication, accessibility, precision, efficiency, innovation.

Our History

Established in 2012, Mendelics is the first and largest Brazilian laboratory specialized in genetic diagnosis tests for rare diseases and cancer through the Next Generation Sequencing (NGS) technique.

We’re pioneers and leaders in Next Generation Sequencing (NGS) in Latin America, being the only Latin American genomic base laboratory to obtain accreditations from CAP (College of American Pathologists – No. 8671464), PALC (Program for Accreditation of Clinical Laboratories – # 32290508) and INMETRO in NBR/ISO-15189.

Awarded Platform

Mendelics was granted with the MIT award for innovation with Abracadabra®, a platform developed in-house to analyze the sequencing results of our patients’ samples.

By using artificial intelligence, Abracadabra® analyzes the genetic variants found in the samples and classify them according to their clinical relevance (from benign to pathogenic).

The analysis in Abracadabra® are exclusively carried out by geneticist physicians, who are also responsible for elaborating the reports.

Board of Directors

Dr. David Schlesinger

CEO
  • Clinical Neurologist, Ph.D. in Human Genetics from the University of São Paulo (USP)
  • Undergraduate degree in Medicine from the University of São Paulo (USP)

Dr. André Valim

BUSINESS DIRECTOR
  • Residency in Psychiatry at USP’s HC
  • Undergraduate degree in Medicine from the University of São Paulo (USP)

Dr. João Paulo Kitajima

BIOINFORMATICS DIRECTOR
  • Ph.D. in Computer Sciences from the Univ. Grenoble
  • Post-doctorate degree in Bioinformatics at UNICAMP
  • Doctorate degree in Informatique from the Institut National Polytechique de Grenoble, INPG in France
  • Master’s degree in Computer Science from the UFRGS
  • Undergraduate degree in Data Processing Technology from the UnB

Prof. Dr. Fernando Kok

MEDICAL DIRECTOR
  • Full Professor of Pediatric Neurology at University of São Paulo (USP)
  • Post-doctorate degree in Neurogenetics at Johns Hopkins University
  • Doctorate degree in Neurology from the University of São Paulo (USP)
  • Residency in Pediatric Neurology at USP’s HC
  • Undergraduate degree in Medicine by USP

In the Media

Technology Innovation

By using artificial intelligence and assistance provided by Abracadabra, outside of the United States, Mendelics is currently considered as being the main submitter of genetic variants of ClinVar, the largest international database for the publication of human genetic variants.

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Pioneer in Next Generation Sequencing (NGS) in Latin America

Mendelics’ laboratory has the largest sample processing capacity of Latin America, being capable of analyzing more than 10 thousand whole exome sequencing per month.

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Mendelics’ Accreditations

Laboratory accreditations contribute with information which allows patients and physicians to evaluate if a laboratory presents technical competence, reliable results and reasonable costs.

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Latest Technical Articles and Materials

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

Abstract Overcoming challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the clinical phenotype. With the improvement of software and databases, whole-exome sequencing quickly can become an excellent strategy in the routine diagnosis of patients with a developmental delay and/or multiple congenital […]

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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

Abstract Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), […]

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ATP6V1B2 – related epileptic encephalopathy

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil

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Ligue para nós no telefone (11) 5096-6001 ou preencha os dados abaixo para que a Mendelics entre em contato para confirmar seu pedido do exame e esclarecer eventuais dúvidas sobre indicações, métodos, requerimentos e preços.

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Llámanos al (11) 5096-6001 o completa la información a continuación para que Mendelics pueda contactarse contigo para confirmar tu pedido del examen y aclarar cualquier duda sobre indicaciones, métodos, requisitos y precios.

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Call us at (11) 5096-6001 or fill in the information below so that Mendelics can contact you to confirm your order for the exam and clarify any doubts about indications, methods, requirements and prices.

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