Genetic Test Diagnoses Lipid Metabolism Disorder

A genetic diagnostic platform can be used to identify patients with inherited disorder of lipoprotein metabolism characterized by elevated levels of total and low-density lipoprotein (LDL) cholesterol.

The platform includes the use of a DNA micro array, the detection of large gene rearrangements and the complete resequencing of the low-density lipoprotein receptor gene and identifies patients with familial hypercholesterolemia (FH).

The platform, called the LipoChip, provides a rapid diagnosis, studying all the genes known to cause FH, such as low density lipoprotein receptor, (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), which permits the specialist to include them in their daily routine. It identifies the large rearrangements of at least 10% of the mutations not detected by sequencing.

The LipoChip genetic test (Progenika Biopharma; SA, Vizcaya, Spain) is CE-marked (European Conformity), and needs only to be performed once in a life time at any age to identify the mutations that cause FH, even in young relatives that have not developed the clinical symptoms. The description of the mutation(s) encountered will confirm the existence of FH or not.

The detection of a Class A mutation is directly associated with FH, and these are mutations whose pathogenicity has been validated in vitro, or they produce a null allele. For Class B mutations, the analysis of the LDLR and APOB genes will define the presence of a mutation that has been previously associated with FH in reports where it has been described in other populations with FH, or that its association with the phenotype has been validated in familial studies. These are mutations in the LDLR and APOB genes that could be associated with FH, but have not been described in the literature. The mutations occur in regions of the genes where they could have a functional effect related to FH, and are known as class C mutations.

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