The Familial Hypercholesterolemia (FH) Arrays I & II are rapid, simple and accurate diagnostic tests which enable simultaneous detection of 40 FH-causing mutations (20 mutations per array) within the LDLR, ApoB and PCSK9 genes.
The assay is based on a combination of multiplex PCR and biochip array hybridisation. Innovative PCR priming technology permits high discrimination between multiple targets. A unique primer set is designed for each target which will hybridise to a complementary oligo-nucleotide probe spotted on a biochip discrete test region (DTR). This combination of priming and spatially organised biochip array technology enables enhanced specificity of the assay. Analysis can be completed from template DNA through PCR to data readout in ~3 hours.
Several validation studies were completed using FH samples, assessing both blinded and un-blinded samples. Total correlation of 98% was observed when using the Familial Hypercholesterolemia Arrays I & II.