FAST-MODY® NGS SEQUENCING KIT

FAST-MODY® NGS SEQUENCING KIT is the NGS based kit developed to investigate the mutations occurring in 8 genes [ABCC8, HNF1A, GCK, HNF4A, HNF1B, INS, KCNJ11 and PAX4], which are known to cause MODY, in DNA molecules isolated from blood or tissues. This kit, which was developed to sequence all the exonic regions of the genes analysed in the Kit by the NGS method, achieves this with a single PCR reaction performed in 5 tubes.

USAGE AREAS

FAST-MODY® NGS SEQUENCING KIT was developed to enable the identification of molecular etiology in more than 90% of the MODY cases. The demonstration of genetic disorder in the MODY cases is extremely important in the diagnosis confirmation, genetic counselling, prenatal diagnosis indications, monitoring, and treatment.

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Description

MODY Mutation Detection Kit with Next Generation Sequence Analysis

“Maturity onset diabetes of the young” (MODY) is a clinically heterogeneous disease characterized by a non-insulin-dependent diabetes mellitus, which is diagnosed at a young age (25 years of age), where autoimmunity does not play a role. It often transits with autosomal dominant inheritance. MODY is the most common form of monogenic diabetes, accounting for approximately 2-5% of all diabetes cases. Because of the variable clinical characteristics, most of these patients are misdiagnosed as Type 1 or Type 2 Diabetes Mellitus.

Numerous different genetic causes have been identified that make up the different strains of the disease. As a result of the mutations in genes that are involved in pancreatic beta cell development, function and regulation, glucose sensitivity and the defect in insulin secretion or its effect occur.

Mutations in the HNF1A and GCK genes are the most frequently identified etiology, followed by the HNF4A gene. Mutations in the genes IPF1, HNF1B, NEUROD1, CEL, INS, ABCC8, and KCNJ11 have been reported to cause the MODY manifestation.

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Additional information

TECHNICAL SPECIFICATIONS

Number of Tests 25 reaction
Transportation Conditions With dry ice and cold chain
Main Material DNA
Storage -20°C
Sequence Type NGS
Kit Content PCR Mix, Primer Mix-I, Primer Mix-II, Primer Mix-III, Primer Mix-IV,Primer Mix-V