Methylenetetrahydrofolate Reductase, DNA Mutation Analysis

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

Specimen Requirements

5.0 mL Whole Blood in a Lavender Top Tube - EDTA

Transport And Storage

8 days Ambient (Transport)
8 days Refrigerated
30 days Frozen

Collection Instructions

 

Minimum Volume

3.0 mL Whole Blood

Neonatal Volume

Reference Range:

Refer to Interpretive Results

Methodology:

• Detection
• Polymerase Chain Reaction (PCR)

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.

CDM

00913004

CPT Coding

81291