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Trombophilic mutations

Eu-Gen MTHFR Dual-Type

REF

9463S/9463

Description

Multiplex Real Time PCR kit for the determination of MTHFR A1298C and MTHFR C677T allelic variants correlated with a higher predisposition to the risk of cardiovascular disorders in the general population.

Packaging

25/100 test

Certification

Plasma homocysteine ​​levels are associated with an increased risk of venous thromboembolism and cardiovascular diseases, which, in the European population, have a prevalence of approximately 1-2 people per 1000/year. These are multifactorial diseases, therefore caused by both environmental factors and a genetic predisposition.
Today, among the most characterized genetic markers that predispose to the condition of thrombophilia is the gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR) that catalyzes the re-methylation of homocysteine ​​into methionine. In particular, the C677T and A1298C polymorphisms of the MTHFR gene represent the most common genetic predisposition factors.

In fact, subjects carrying these variants have a deficit in the functionality of the MTHFR enzyme and a consequent increase in blood levels of homocysteine ​​that has been shown to be linked to a greater risk of incurring cardiovascular diseases.

Eu-Gen MTHFR Dual Type is a qualitative kit in Multiplex Real Time PCR that offers a combined diagnostic solution to determine the genotype of both polymorphisms affecting the MTHFR gene.

Summary

Technology

Genetic testing - Real time PCR technology

Target

  • MTHFR C677T
  • MTHFR A1298C

Genetic region

  • MTHFR 677 C>T (rs1801133)
  • MTHFR 1298 A>C (rs1801131)

Mastermix number

1

UDG

Yes

Fluorophores

  • FAM
  • TexasRed
  • HEX
  • Cy5

Limit of Detection (LoD)

0,1 ng/μL

Analytical specificity

100%

Diagnostic sensitivity

100%

Diagnostic specificity

100%

Specimen

  • Whole blood
  • Saliva

Validated thermalcyclers

Software

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