ViroGene MTHFR 677 QPCR Kit

ViroGene MTHFR 677 QPCR Kit

Thrombophilia is a term used to describe a group of conditions in which there is an increased tendency for excessive clotting. The development of a blood clot is called thrombosis. The vascular system includes both the venous system (the veins that deliver blood from the tissues to the heart) and the arterial system (the system that delivers blood from the heart to the tissues). Thrombotic episodes may occur in either system. The severity of the symptoms depends on the part of the vascular system in which they occur, the extent of the clot and whether the clot breaks off and travels to another part of the body (e.g. the lungs—pulmonary embolus, the brain—embolic stroke, etc). Several types of conditions have been identified which may lead to dangerous clots. These conditions may be present at birth (congenital or inherited) or may occur as a result of another condition (acquired).

Thrombophilia affects a large number of individuals in the world. The most common mutation associated with inherited thrombosis in the Caucasian population is the Factor V Leiden mutation, which leads to resistance to activated protein C. The second most common mutation associated with hereditary thrombosis is the G20210A mutation in the prothrombin (Factor II) gene, which is associated with high plasma prothrombin levels.

Another risk factor for venous thrombosis is increased plasma homocysteine level, which is associated with homozygosity for a nucleotide variant in the methylenetetrahydrofolate reductase (MTHFR) gene. The MTHFR 677 C-T variant (leading to an alanine-to-valine substitution) results in a thermolabile enzyme and decreased production of folate, which is a cofactor required for homocysteine remethylation.

 

Indication in vitro diagnostic medical device
Regulatory Status CE IVD
Intended User For professional use in laboratories with trained staff
Technology Real-time PCR
Type of Analysis Qualitative
Target Sequence C677T polymorphism in the gene for methylenetetrahydrofolate reductase (MTHFR), (rs1801133)
Analytical Sensitivity (LoD) Reaches up to 2 ng/µl
Positive Percentage Agreement 100 % (CI95%: 79.95 % – 100 %)
Negative Percentage Agreement 100 % (CI95%: 65.55 % – 100 %)
Overall Percentage Agreement 100 % (CI95%: 85.87 % – 100 %)
Validated Specimen Whole blood
Storage -20 ± 5 °C
Validated Extraction Methods ViroGene DNA Extraction Kit & NA16 MagCore NA Extractor
Instruments Applied Biosystems 7300 / 7500 Real-Time PCR System
AriaMx Real-Time PCR System
LightCycler® 2.0 / 480
CFX Connect™ / CFX96™ / Dx Real-Time PCR Detection System
LineGene 9600 Plus
Mic qPCR Cycler
QuantStudio™ 3 / 5 Real-Time PCR System
Rotor-Gene 3000/6000/Q*
SLAN® Real-Time PCR System
StepOne™ / StepOnePlus™ Real-Time PCR System
Required Detection Channels FAM, HEX/JOE