In vitro diagnostic kit based on real-time PCR for the simultaneous detection of the A1298C and C677T polymorphisms in the MTHFR gene.

Detailed description

Operating principle

The assay is based on real-time PCR (Real-Time PCR) amplification using TaqMan® hydrolysis probes. Two primer pairs are used to amplify specific regions of the MTHFR gene containing the A1298C and C677T polymorphisms. Detection is performed using allele-specific probes labelled with different fluorophores, enabling genotypic discrimination.

Clinical applications

Auxiliary tool for the diagnosis of disorders associated with the MTHFR gene, especially in cases of idiopathic recurrent pregnancy loss and disorders related to hyperhomocysteinaemia.

Key aspects and benefits

Simultaneous detection of both polymorphisms (A1298C and C677T) in a single reaction
Includes internal controls
High concordance with reference methods
High reproducibility

Key indicators

100% Diagnostic concordance.
100% Repeatability and reproducibility.

Intended users

Technical personnel trained and qualified in molecular biology and genetic analysis in specialised clinical laboratories.

Considerations or limitations

Detects only the A1298C and C677T polymorphisms in the MTHFR gene. Variants in primer- or probe-binding regions may affect the interpretation of results. The results must be used together with other clinical and laboratory data.
Presentation details
Available references
GVS-MTH-M-24 24 tests.
GVS-MTH-M-48 48 tests.
GVS-MTH-M-96 96 tests (on request).
Kit contents: each kit contains Master Mix, the primer mixture (Primer Mix), controls (WT and MUT), and a reaction blank (Reaction Blank).
Storage conditions: Store between -30°C and -18°C.

Area:

Hematology
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