CONGENITAL HEART DISEASE RISK
Why get tested?
Congenital heart diseases represent the most common congenital anomalies, occurring in almost 1% of live births. Among birth defects, congenital heart disease is the leading cause of infant mortality. Manifestations of congenital heart disease are varied but commonly include: murmurs, cyanosis, heart failure, and decreased or non-palpable pulses. It is important to identify genetic factors because more patients with congenital heart disease than in the past are able to survive to adulthood and can potentially have families and therefore pass on variants.
What the test detects
The tests allow to identify, on the panel of investigated genes, small sequence variations such as: single nucleotide changes, insertions and deletions of a few base pairs. The sequence variants in the identified genes can predispose to an altered functional capacity of the heart that manifests itself with different symptoms and complications.
How testing works
The genetic test consists in a blood test, in the extraction of genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of different genes, in relation to the specific clinical phenotype. The analysis is conducted with NGS technology.
Which pathologies are detected
Results in 45 working days.
Sensitivity and specificity
Sensitivity, specificity analytical accuracy > 99%.