Methylenetetrahydrofolate Reductase, DNA Mutation Analysis

Last Modified: 6/17/2019 1:21:15 PM

Medical Necessity Documentation:  
Client Notes:  
Patient Preparation:  
Specimen Requirements: 5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Collection Instructions:  
Minimum Volume: 3.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 8 days Ambient (Transport)
8 days Refrigerated
30 days Frozen
Reference Range: Refer to Interpretive Results
Critical Ranges:  
Test Comments:  
Methodology: Polymerase Chain Reaction and Detection
Clinical Significance: Two mutations in the MTHFR gene have been associated with an increased risk for neural tube defects (NTD) and cardiovascular disease (C677T and A1298C). Homozygosity for the C677T mutation or compound heterozygosity for C677T and A1298C is associated with reduced MTHFR activity. Decreased MTHFR activity leads to hyperhomocysteinemia and lowers plasma folate levels
Documentation: 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.
Custom Panel: No


Turn Around Time: 3 to 4 days
Days Performed: Sunday, Monday, Tuesday, Wednesday, Thursday, Friday, Saturday
Sites Performed: Quest - Chantilly
PHL Test Code: MTHFR
EPIC Test Code: IMO124
Send Out Test Code: 17911
Alternate Test Names: Methylenetetrahydrofolate Reductase (MTHFR), DNA M; MTHFR
Included Tests:  
CPT Coding: 81291

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