ADH MASTR v2 - Multiplicom

SNVs and CNVs in the LDLR, PCSK9, APOE and APOB genes, extended with 12 SNPs at additional locations

The ADH MASTR v2 is a molecular assay (research use only) for the identification of all SNVs and CNVs in LDLR, PCSK9, APOE, part of exon 26 (c.10200 to c.11100) of APOB and 12 SNPs underlying Autosomal Dominant Hypercholesterolemia.

Autosomal dominant familial hypercholesterolemia (ADH) is a genetic disorder characterized by substantially raised levels of low-density lipoprotein cholesterol (LDL-C) and an increased risk of early coronary heart disease (CHD). Its prevalence is reported to be 1:500 in the general population, but this may be underestimated as higher frequencies have been reported for certain populations.ADH is inherited in an autosomal dominant pattern, occurring in 1:500 people worldwide with different mutation spectrum depending on country and population.

Mutations in LDLR, PCSK9, and APOB are the leading cause of monogenic ADH, while variants in APOE are associated with CHD. However in about 60% of patients, causative mutations in these genes are absent. In these patients, raised LDL-C concentrations may have a polygenic cause, compromising the efficacy of a follow-up screening strategy to detect affected relatives. In patients with a mutation, an additional polygenic contribution might explain the variable penetrance of the disease. Therefore, Talmud PJ et al. suggested that the combined information on the status of 12 additional SNPs, each influencing the LDL-C level, might be a valuable study tool. Early detection of the defected genes by massively parallel sequencing (MPS) provides a faster and more comprehensive approach, thus leading to better management of ADH treatment and control. Current methods, such as Sanger-based sequencing, are time consuming, labor-intensive and expensive. Identification of mutations by MPS provides a faster and cost-effective approach.

Note: This assay is to be used for research use only.

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