ARUP's Laboratory Test Directory

Methylenetetrahydrofolate Reductase Mutation Detection (Thermolabile Form) (C677T & A1298C) : 0055655
[ image for: Patient History For Molecular Genetics]
Patient History For Molecular Genetics
  


Mnemonic: MTHFR PCR

Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Sun-Sat
Reported: 2-7 days
Specimen Required: Collect:  One 5 mL lavender (EDTA) or pink (K2EDTA). (Min: 3 mL) Also acceptable: yellow (ACD Solution A), lt. blue (sodium/citrate), green (sodium or lithium heparin). 

Transport:  5 mL whole blood at 2-8°C. Do not freeze.

Pediatric Collection/Transport:  1 mL whole blood at 2-8°C. Do not freeze.

Unacceptable Conditions:  Serum, plasma, frozen whole blood, clotted blood, and severely hemolyzed samples.

Stability:  Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
Negative: This sample is negative for MTHFR C677T and A1298C mutations.
Interpretive Data: Background Information for Methylenetetrahydrofolate Reductase (MTHFR):
Characteristics: Elevated plasma homocysteine levels and premature cardiovascular disease.
Incidence: US allele frequency of C677T = 0.39 and A1298C = 0.17; homozygosity for C677T is 1-15%.
Inheritance: Autosomal recessive.
Cause: Homozygosity for MTHFR gene mutation C677T or compound heterozygosity for C677T/A1298C.
Mutations Tested: c.677C>T and c.1298A>C.
Clinical Sensitivity: Undefined. Sensitivity is dependent upon multiple contributing factors.
Methods: PCR followed by fluorescent monitoring using hybridization probes.
Analytical Sensitivity & Specificity: 99%
Limitations: Only the two MTHFR gene mutations targeted (C677T and A1298C) will be detected; analytical sensitivity may be affected by rare primer site mutations.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
This test is performed pursuant to an agreement with Siemens Medical Solutions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.





Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
Note: For methotrexate sensitivity, order Methotrexate Sensitivity by MTHFR Genotyping (0051286).
CPT Code(s): 83890 Isolation; 83900 Molecular diagnostics; 83896 x4 Nucleic acid probe; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
 
 

 

 

 
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