Fluorescence PCR · Pharmacogenetics
MTHFR Gene Polymorphism Detection Kit (Fluorescence PCR)
Qualitative detection of two MTHFR gene polymorphisms from whole blood using fluorescence PCR. Assists in pharmacogenetic-guided folate therapy and risk assessment for neural tube defects related to folate metabolism.
- SKU Code
AENE-GE004- Approval
- On request
- Product Type
- Assay / Kit
- Status
- Available
Qualitative detection of two MTHFR gene polymorphisms from whole blood using fluorescence PCR. Assists in pharmacogenetic-guided folate therapy and risk assessment for neural tube defects related to folate metabolism.
| Product type | Assay / Kit |
|---|---|
| Technology platform | Fluorescence PCR |
| Application area | Pharmacogenetics |
Epidemiology
Folic acid, a water-soluble vitamin, acts as an essential cofactor in metabolic pathways. Numerous studies have shown that mutations in the folate-metabolizing enzyme gene MTHFR lead to folic acid deficiency. In adults, common consequences include megaloblastic anemia and vascular endothelial damage. In pregnant women, insufficient folic acid cannot meet maternal and fetal demands, causing neural tube defects, anencephaly, stillbirth, or miscarriage. Serum folate levels are influenced by polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR). The 677C>T and 1298A>C mutations cause alanine-to-valine and glutamic acid substitutions, respectively, reducing MTHFR activity and thus impairing folic acid utilization.
Work Flow
The workflow provides two extraction options.
Option 1: Genomic DNA Kit and Automatic Nucleic Acid Extractor.
Option 2: Blood Genomic DNA Extraction Kit (YDP348, JCXB20210062) and Blood Genome Extraction Kit (A1120).
| SKU code | AENE-GE004 |
|---|---|
| Storage | ≤-18℃ |
| Shelf-life | 12 months |
| Specimen Type | Freshly collected EDTA anticoagulated blood |
| CV | ≤5.0% |
| Ct | ≤38 |
| LoD | 1.0ng/μL |
| Applicable Instruments | : Applied Biosystems 7500 Real-Time PCR Systems Applied Biosystems 7500 Fast Real-Time PCR Systems SLAN ®-96P Real-Time PCR Systems QuantStudio™ 5 Real-Time PCR Systems LightCycler®480 Real-Time PCR system LineGene 9600 Plus Real-Time PCR Detection System MA-6000 Real-Time Quantitative Thermal Cycler BioRad CFX96 Real-Time PCR System BioRad CFX Opus 96 Real-Time PCR System |
| Approval | On request |
|---|---|
| Documents | Datasheet, IFU, SDS, COA / conformance, origin, and export documents where available |
FAQ
What should be confirmed before quotation?
Sample context, collection method, and extraction workflow should be confirmed before final kit selection.
Which documents can be requested?
Datasheet, IFU, SDS, COA / conformance, origin, insurance, and export documents can be checked where available.
Can the format be adjusted for different workflows?
Liquid or lyophilized format options should be confirmed together with instrument compatibility and shipment requirements.
Inquiry
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