MTHFR Mutation Molecular Detection

Synonyms

• HYPERHOMOCYSTEINEMIA, MTHFR DNA ASSAY
• LAB11455
• METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR)
• MOLECULAR GENETICS - MTHFR GENE

Cerner Name

HLX MTHFR CASE

Clinical Info

Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been associated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

1-3 mL of peripheral blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender-top (EDTA) tube
Specimen:  1-3 mL of peripheral blood
Transport Temperature:  Room Temperature
Collection Instructions:
Note:  Pertinent medical information including patient’s age, suspected diagnosis and a signed “Patient Consent Form” are required on request form for processing.

Transport Instructions

Room Temperature

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Real Time PCR

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratories

Northwell Health Laboratories

CPT

81291

PDM

5160200

Ordering Instructions

Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been a ssociated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women.

Results

Result Interpretation

Forms

• Molecular Genetics test requisition and Consent