WOMAN CARRIER
Why get tested?
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
Test that aims to search for the presence of pathogenetic variations in the genes responsible for the most widespread autosomal recessive or X-linked genetic diseases.
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, DMD, GJB2, GJB6, HBA1 / HBA2, HBB, PAH genes and SMN1 using NGS technology. For the CFTR, DMD, GJB2, GJB6, HBA1 / HBA2, HBB and SMN1 genes, copy number analysis is also carried out by quantitative assay of genomic DNA through the use of specific molecular probes and NGS analysis.
Reporting time
Results in 30 working days.
Sensitivity and specificity
Analytical sensitivity and specificity > 99%.