This test is offered to determine whether you are a healthy carrier of three of the most common hereditary genetic disorders in the Western population. It is recommended for those who are planning a pregnancy with their partner, for family members of affected individuals, or when the partner has already been identified as a carrier of one of these conditions, to enable informed reproductive decision-making.

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

• Spinal Muscular Atrophy (SMA) (SMN1 gene)
• Beta Thalassemia (HBB gene)
• Cystic Fibrosis (CFTR gene)

The test is designed to detect the presence of pathogenic variations in the genes under investigation. The identification of a variation indicates that the man is a healthy carrier of the disease under investigation. Since these are autosomal recessive disorders, the carrier does not exhibit symptoms; however, if the female partner is also a healthy carrier of the same gene, the couple has a 25% risk with each pregnancy of having a child affected by the disorder.

The test involves drawing a blood sample from which genomic DNA is extracted. The analysis is performed using targeted, highly accurate molecular techniques specific to each gene (MLPA for SMN1, Sanger sequencing for HBB, PCR, and reverse dot blot for CFTR).

Results in 18 working days.