Oct 28, 2009: GENDIA now offers a next-generation sequencing platform for the molecular diagnosis of Familial Hypercholesterolemia with complete sequencing of the following 7 genes:
- LDLR gene encoding low density lipoprotein receptor for Familial hypercholesterolemia type 2A
- APOB gene encoding apolipoprotein B for ligand-defective apolipoprotein B-100 hypercholesterolemia and familial hypobetalipoproteinemia
- ABCA1 gene encoding ATP-binding cassette transporter 1 for Tangier disease and familial high density lipoprotein deficiency
- APOA2 gene encoding apolipoprotein A2 for familial apolipoprotein A2 deficiency
- APOC3 gene encoding apolipoprotein C3 for familial apolipoprotein C3 deficiency
- PCSK9 gene encoding proprotein convertase subtilisin/kexin type 9 for autosomal dominant hypercholesterolemia type 3
- PON2 gene encoding paraoxonase 2 for coronary heart disease
The price for the analysis of the 6 genes in a single sample is 1500 Euro.
Once a disease-causing mutation is identified, family members can be screened for that mutation at 250 Euro.
The turnaround time of the test is 3 months.
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