Specimen

Whole Blood

Collection Medium:

Alternate
Collection Media:

Yellow top tube (ACD solution A), Light Blue top tube (Na Citrate), 
Light Green top tube (Lithium Heparin), Green top tube (Na Heparin)

Minimum:

Adult preferred minimum:  One 6 mL pink top tube
Adult absolute minimum: 5 mL
Pediatric minimum:  1 mL

Rejection Criteria:

Serum, plasma, frozen whole blood, clotted blood, and severely 
hemolyzed specimens.

Analytic Time:

2 weeks

Reference Range:

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.

Analytical Sensitivity & Specificity: 99%

Comments:

Please print, complete and submit the following form to the lab, with 
the specimen and the A-1a Miscellaneous Request:
Patient History For Molecular Genetic Testing from ARUP 
Laboratories.

NOTE:  This testing is not valid for methotrexate sensitivity.

Test
Limitations:

Only the two MTHFR gene mutations targeted (C677T and A1298C) will be 
detected; analytical sensitivity may be affected by rare primer site 
mutations.

Methodology:

Polymerase Chain Reaction/Fluorescence Monitoring

CPT Code:

83890, 83900, 83896(x4), 83912; additional CPT code modifiers may be 
required for procedures performed to test for oncologic or inherited 
disorders.