Hypoplastic Left Heart Syndrome
Analysis ID 125
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hypoplastic Left Heart Syndrome
OMIM #241550
Clinical information Hypoplastic Left Heart Syndrome (HLHS) is a congenital heart disorder, which consists of agenesis of the left ventricle. In the fetal period growth of a child is normal. There are several genetic causes of HLHS and one of them comprise GJA1 gene mutations.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes GJA1 (Cx43)
Analysis description Analysis of the coding sequence of the GJA1 (Cx43) gene
Analysis indication Hypoplastic Left Heart Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders