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

It is a progressive sensory-motor neuropathy and of the autonomic system onset in adulthood. Weight loss, insensitivity to pain and temperature and cardiac involvement are common.
Tested gene: TTR
It is a defect in the metabolism of glycosphingolipids, due to a mutation of the GLA gene. The clinical picture includes a broad spectrum of symptoms, ranging from mild forms in heterozygous females to severe cases in hemizygous males. The typical symptoms of the pathology are: pain, angiokeratoma, cardiomyopathies and arrhythmias, strokes and transient ischemic episodes.
Tested gene: GLA
It is a congenital heart malformation that concerns the membrane interposed between the right and left atrium. The opening of the atrial septum produces an increase in the passage of blood from the left atrium to the right and a consequent overload of the volume of the atrium and right ventricle. Children are rarely symptomatic but complications after age 20 include pulmonary hypertension, heart failure, and atrial arrhythmias.
Tested genes: ACTC1, ACTN2 and DTNA

Reporting time

Results in 45 working days.

Sensitivity and specificity

Sensitivity, specificity analytical accuracy > 99%.

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