This test is offered to determine whether a person is a carrier of some of the most common hereditary genetic disorders in the population. It is particularly recommended for those planning a pregnancy, for family members of affected individuals, or for partners of known carriers, in order to assess reproductive risk and support informed family planning.

This test screens for pathogenic variants in the genes responsible for the following conditions:

• Spinal Muscular Atrophy (SMA) (SMN1 gene)
• Beta Thalassemia (HBB gene)
• Duchenne and Becker Muscular Dystrophy (DMD gene)
• Cystic Fibrosis (CFTR gene)
• Fragile X Syndrome (FMR1 gene)

The test is designed to detect the presence of pathogenic variations in the genes under investigation. The identification of a variation indicates carrier status for the disease under investigation. In autosomal recessive disorders (SMA, beta-thalassemia, cystic fibrosis), the risk to children exists only if the partner is also a carrier. In X-linked disorders (DMD, Fragile X), a female carrier has a 50% chance of passing the condition on to her sons or of passing on carrier status to her daughters.

The test involves a blood draw from which genomic DNA is extracted. The analysis is conducted using highly accurate, targeted molecular techniques for each gene (MLPA, Sanger sequencing, PCR/reverse dot blot, and fragment analysis).

Results in 18 working days.