Multiplicom NV, a specialist in the development, production and commercialization of innovative molecular genetic tests based on massively parallel sequencing (MPS), has launched a CE/IVD labelled MID kit for Illumina MiSeq together with three new germline mutation detection MASTR kits enabling the identification of individuals at risk for maturity onset diabetes of the young (MODY), autosomal dominant hypercholesterolemia (ADH), and hypertrophic cardiomyopathy (HCM).

The MID kit for Illumina MiSeq may be used in combination with all Multiplicom’s MASTR kits, enabling MiSeq users to drastically limit validation work required for accreditation. An extensive multicenter validation study of the BRCA MASTR Dx on MiSeq proved its excellent sensitivity (100%) and specificity (>99.99%).

The MASTR kits for MODY, ADH and HCM were developed and validated in collaboration with the Institute of Cardiometabolism and Nutrition (ICAN) at Hôpital Pitié Salpêtrière in Paris: key opinion leaders in their fields. The new MASTR kits not only provide a means of identifying disease-­-causing mutations in clinical routine, but also have positive economic implications that will ultimately lead to superior healthcare at a lower cost.

Multiplicom is operating in an area of rapid growth. The European MPS diagnostic market is expected to grow from €20M in 2012 to >€2,000M in 2018 (CAGR% >100%) within a worldwide market of >€6,000M in 2018, of which about 30% is cancer related and about 10% is cardiovascular and metabolic related (Source BCC Research). Based on its success in Europe, with sales in 2013 estimated at €3M (CAGR%>100%) and with the launch of new products for both genomic and somatic mutations, Multiplicom is now also looking for additional growth in other major territories.

Dr Alain Carrié, coordinator of the "Centre de Génétique Moléculaire et Chromosomique" APHP and ICAN, Paris, said: “The MASTR technology is straightforward, easy to implement and provides reliable results suited to our diagnostic applications. We are ready to implement the jointly developed new assays for MODY, ADH and HCM in routine and are prepared, and able, to manage the increasing demand from physicians and patients to provide more genetic information within an increasingly short time frame.”

Molecular identifiers (MIDs) that were developed and fully validated in accordance with the CE/IVD directive, for use in combination with the MiSeq instrument from Illumina. The MID’s are available as two kits, each allowing 48 different dual barcodes, and combined allow up to 192 samples in a single run.

Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant gene. MODY cases may make up as many as 5% of presumed type 1 and type 2 diabetes cases in a large clinic population. The prevalence is 70–110 per million.MODY MASTR allows amplification and sequencing of the following genes: GCK, HNF1A, HNF4A, HNF1B, INS, ABCC8, and KCNJ11.

Hypercholesterolemia is a major risk factor for atherosclerosis and its premature cardiovascular complications. The diagnosis of ADH is difficult, due to the overlap of cholesterol values between monogenic and multifactorial forms. DNA testing provides an unequivocal diagnosis and allows the identification of affected relatives at an early age when they can be offered lifestyle advice and appropriate lipid-­- lowering therapies. The heterozygous prevalence is estimated at 1/500.ADH MASTR allows amplification and sequencing of the following genes: LDLR, ApoB,PCSK9, and ApoE.

Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide and often begins in adolescence or young adulthood, although it can develop at any time throughout life.HCM MASTR allows amplification and sequencing of the following genes: MYH7,MYBPC3, TNNT2, TNNI3 and MYL2.