The test is proposed to determine the carrier status in relatives of affected individuals and in the partner of those who were found to be carriers for the purposes of family planning.
What the test detects
Test that aims to search for the presence of causative variations in the genes related to the most common autosomal recessive or X-linked genetic diseases in the western population: Alpha thalassemia, Spinal muscular atrophy (SMA), Beta thalassemia, Duchenne and Becker muscular dystrophy , Phenylketonuria, Cystic fibrosis, Non-syndromic hearing loss.
What variants cause
The deletions in the HBA1 and HBA2 genes make it possible to determine the carrier status of alpha thalassemia, which is an autosomal recessive transmission, i.e. when both parents are carriers there is a 25% chance of having an affected child.
How testing works
The test consists in performing a blood sample, in the extraction of the genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of the CFTR, GJB2, GJB6, HBA1 / HBA2, HBB, PAH and SMN1 genes using NGS technology. For the CFTR, SMN1, GJB2, GJB6, HBA1 / HBA2 and HBB genes, copy number analysis is also carried out by quantitative assay of genomic DNA through the use of specific molecular probes and NGS analysis.