Why get tested?

The test is proposed to determine the carrier status in: couples of the general population, individuals with a positive family history for cystic fibrosis, couples of consanguineous subjects; couples with pregnancy with fetal hyperechoic intestine, subjects with infertility secondary to congenital absence of the vas deferens.

What the test detects

The test aims to search for the presence of causative variants in the CFTR gene responsible for Cystic Fibrosis, a hereditary, chronic and developmental disease.

What variants cause

Variants in the CFTR gene are responsible for Cystic Fibrosis.

How testing works

The test consists in performing a blood sample, in the extraction of genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of the CFTR gene using NGS technology. The test also allows the analysis of the number of copies by quantitative dosage of genomic DNA through the use of molecular probes.

Reporting time

Results in 30 working days.

Sensitivity and specificity

Analytical sensitivity and specificity > 99%.

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