What disorders are included?

The Carrier Screening Test covers a wide range of mutations that result in serious genetic illnesses. It includes screening of all the mutations recommended by professional gynecology and genetic associations


According to data from the World Health Organization (WHO), the global prevalence of these illnesses is 10 in 1000 newborn infants.

There are estimates that, taken together, indicate that these illnesses represent 20% of the causes of infant mortality in developed countries and that they are behind 18% of the interventions in pediatric hospitals.

See the complete panel of mutations included in the CGT test


The most common single gene disorders
detected with the CGT test are:
Spinal Muscular Atrophy
Wilson disease
Miyoshi myopathy
Dihydropyrimidine dehydrogenase deficiency
Factor V deficiency
Acyl-CoA dehydrogenase deficiency, medium-chain
Hemophilia A
Classic congenital adrenal hyperplasia
Cystic fibrosis
Retinitis pigmentosa
Gaucher disease
Fragile X Syndrome


The set of genetic diseases analyzed by our Carrier Genetic Test is available here.

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