Clinical Genomics

Clinical Genomics Laboratory works with the most advanced technologies available for genetic diagnosis.

The use of Next Generation Sequencing (NGS) allows the sequencing analysis in a single test, of a gene, several genes (panel) or the whole exome. This enables shorter turnaround times, reduced costs and, mainly, increased diagnostic yield.

CGC Genetics offers a wide range of NGS panels for detection of several genetic diseases. Also, whole exome, clinical exome (includes 96% of clinically-relevant genes) and mitochondrial genome sequencing are available.

With reduced turnaround times and costs and also the capacity to process a large sample volume, this laboratory offers the most efficient and innovative medical genetics tests available.

Director: 

• Jorge Pinto Basto, MD

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    Clinical Director of CGC Genetics

    Specialist in Clinical Genetics.

    Chairman of the Board of the College of Medical Genetics of the Portuguese Medical Association.

    Molecular Genetics and Clinical Genomics Laboratories Director of CGC Genetics.

    Clinics: Medical Genetics, Dysmorphology, Neurogenetics and Genetic Counselling.

    He has experience in the management of clinical molecular genetics laboratories and specializes in the clinical integration of genomic data (NGS). 

    Main fields of interest: NGS, genetics of rare diseases, dysmorphology, neurogenetics and variants evaluation.