Congenitally uncorrected transposition of the great arteries (ccTGA): Clinical exome panel (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Congenitally Uncorrected Transposition of the Great Arteries (ccTGA) panel analyzes four genes associated with this rare congenital heart defect, characterized by atrioventricular and ventriculoarterial discordance. This discordance maintains physiological blood flow but carries a risk of ventricular dysfunction and rhythm disturbances. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it identifies variants in genes involved in embryonic cardiac development and left-right axis deviation. Genes included are: CFC1, GDF1, ZIC3, and MED13L.