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MODY MASTR - Multiplicom

Mutations and CNVs in the ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS and KCNJ11 genes

The MODY MASTR assay amplifies the entire coding regions of the ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS and KCNJ11 genes. The assay contains 118 amplicons (280-430 bp), including control amplicons for evaluation of copy number variations in 5 multiplex PCR reactions.

Maturity onset diabetes of the young (MODY), also known as “monogenic diabetes” refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant inherited gene disrupting insulin production. Typically, patients with positive family history of diabetes will develop MODY. Several phenotypes indicate the presence of monogenic diabetes, including neonatal diabetes and rare diabetes-associated syndromes.

Mutations on several genes leading to monogenic diabetes have a different respond to current treatments (i.e. oral sulfonylurea drugs and/or insulin). Patients with one single gene mutation may benefit more from a simple change in diet or oral treatment rather than the insulin approach. Current methods, such as Sanger-based or gene-to-gene are time-consuming, labor-intensive and more expensive. Early detection of the defected genes by MPS provides a faster and more comprehensive approach, thus leading to better management of monogenic diabetes treatment and control.  

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

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http://www.multiplicom.com/product/mody-mastr
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