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17911: Methylenetetrahydrofolate Reductase, DNA Mutation Analysis Print View
MTHFR HYBEACONS     

PRIMARY
1 Whole Blood EDTA 5 (3) mL   Frozen - 30 Day(s)/Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
ALTERNATE
  Amniotic Fluid   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood ACD Sol A 5 (3) mL   Frozen - 30 Day(s)/Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood ACD Sol B 5 (3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)/Frozen - 30 Day(s)  
  WB EDTA Trace Metal   Frozen - 30 Day(s)/Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Bld Heparin Lithium   Frozen - 30 Day(s)/Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  CVS Biop 10-20mg in cult   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Amniocytes Cultured   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
  Whole Blood Heparin 5 (3) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)/Frozen - 30 Day(s)  

The Methylenetetrahydrofolate Reductase (MTHFR) enzyme plays a major role in homocysteine metabolism and contains several known polymorphisms, of which the most common is C677T. This mutation is reported to reduce MTHFR activity, resulting in hyperhomocysteinemia. This condition is a risk factor for cardiovascular disease, increased risk for arterial and venous thrombosis, and an increased risk for obstetrical complications, e.g., preeclampsia, abruptio placentae, fetal growth retardation, and stillbirth.

Whole blood (preferred): Normal phlebotomy procedure. Specimen
stability is crucial. Store and ship room temperature immediately.
Do not freeze.

For prenatal diagnosis with a fetal specimen: 1) parents must be
documented carriers of one of the mutations tested; 2) maternal blood
or DNA must be available; 3) contact the laboratory genetic counselor
before submission.

Amniotic fluid (acceptable): Normal collection procedure. Specimen
stability is crucial. Store and ship room temperature immediately.
Do not refrigerate or freeze.

Amniocyte culture (acceptable): Sterile T25 flask, filled with
culture medium. Specimen stability is crucial. Store and ship room
temperature immediately. Do not refrigerate or freeze.

Dissected chorionic villus (CVS) biopsy (acceptable): 10-20 mg
dissected chorionic villi collected in sterile tube filled with
sterile culture media. Specimen stability is crucial. Store and ship
room temperature immediately. Do not refrigerate or freeze.
Setup Schedule
Sunday-Saturday

Reported (Analytical Time)
3 days

CPT Code
81291

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
LIMITATIONS: The purpose of this test is to determine if you have two, one, or no copies of either of two mutations in the MTHFR gene, C677T and A1298C. *The 2012 AMA CPT codebook contains Tier 1 and Tier 2 Molecular Pathology Procedures as well as Molecular Pathology Procedures to be coded by procedure rather than analyte. Please direct any questions regarding coding to the payor being billed.






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