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Genetic Disorders

Genetic diagnosis helps couple make informed reproductive choices

Highly sensitive assay detects a somatic mutation

Molecular assay confirms a mutation in the gene that causes Congenital Adrenal Hyperplasia

Rapid and specific test that detects >99% cases of Prader Willi Syndrome

The right molecular assay supports clinical suspicion in a case of Silver-Russell Syndrome

A germline mutation in the VHL gene is responsible for Von-Hippel-Lindau disease

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