Familial hypercholesterolemia, Familial ApoB100 defect
Analysis ID 146
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Familial hypercholesterolemia, Familial ApoB100 defect
OMIM #143890
Clinical information Increased level of cholesterol in blood serum is observed in at least two monogenic autosomal dominant disorders, i.e. familial hypercholesterolemia and familial ApoB100 defect.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes APOB100; LDLR
Analysis description Analysis of the 3 most common Polish mutations in the APOB100 gene and a common Polish mutation (p.G571E) in the LDLR gene.
Analysis indication Hypercholesterolemia, LDL 190 mg/dl or more, xanthomatosis
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology