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Test Code
Due to the sensitivity of this test, the entire specimen must be submitted in the original tube.
SynonymsMethylenetetrahydrofolate Reductase Mutation Detection (Thermolabile Form) (C677T and A1298C); MTHFR; Molecular Tests
Container TypeLavender top tube (EDTA)
Supply Item Numberpicture1222
Specimen TypeWhole blood
Preferred Volume3 mL
Emergency Minimum Volume1 mL
Specimen ProcessingDue to the sensitivity of this test, submit the entire specimen in the original collection tube. Do not freeze.
Store and TransportRefrigerated or ambient (room temperature)
StabilityRoom Temp 3 days  Refrigerated 5 days  Frozen (-20 °C) Unacceptable  
Unacceptable ConditionHeparinized whole blood, serum, grossly hemolyzed, or frozen samples, samples not in original collection tubes, over 5 days old, or in leaking containers
Alternate SpecimensACD or sodium citrate whole blood (yellow or light blue top tube)
CPT Codes81291, (ZBZT3)
Interface Order Code84999.Z272
Billing CodeMTINV
Test ScheduleTue, Thu, Sat
Turnaround Time2-7 days
Test IncludesMTHFR Result; MTHFR Comment; MTHFR Comment
Reference Ranges
MTHFR ResultNegative for C677T and A1298C mutations.
A negative result does not rule out other causes for hyperhomocysteinemia, coronary artery disease or venous thrombosis.
MTHFR Comment
Patient DNA is assayed for the C677T and A1298C mutations by polymerase chain reactions (PCR) and eSensor technology. The product of PCR is detected on the GenMark XT-8 system. Patients receiving genetics testing should consider genetic counseling. Counseling of potentially affected family members may also be warranted.
MTHFR Comment
This test is FDA approved and is intended for in vitro diagnostic use.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Clinical SignificanceThe enzyme MTHFR functions in the regulation of methylenetetrahydrofolate (MTHF), the primary form of circulatory folate. Indirectly MTHFR also down regulates the circulatory concentration of homocysteine. When mutations decrease MTHFR's activity, it produces a chronic folate deficit by the inability of the body to correctly process folate's circulatory form. Decreased activity of the enzyme also leads to inappropriately high concentrations of homocysteine (hyperhomocystenemia) as the re-methylation of homocysteine into methionine is hampered. The faulty mechanism or its resultant effects on MTHFR and homocysteine circulatory concentrations when linked with insufficient folate intake has been tied in with various neural and vascular disease states. In the most severe forms of enzyme inhibition, disease states such as neural tube defects, mental retardation, delayed development, seizures, thromboses, motor and gait disorders are possible.
Compliance RemarksThis test is FDA approved and is intended for in vitro diagnostic use. This test is performed pursuant to an agreement with Roche Molecular Systems, Inc

Interface Codes
typeorder codetest descriptionresult coderesult descriptionunitsdecimal placesloinc code
o84999.Z272MTHFR C677T and A1298C,Invader
r84999.Z272MTHFR C677T and A1298C,Invader84999.Z269MTHFR Result  21709-1
r84999.Z272MTHFR C677T and A1298C,Invader84999.Z270MTHFR Comment  21709-1
r84999.Z272MTHFR C677T and A1298C,Invader84999.Z271MTHFR Comment  21709-1