MTHFR Mutation Molecular Detection Build info

Synonyms

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

Short Name

MOLECULAR GENETICS - MTHFR GENE

Procedure Master Number

LAB11455

Procedure ID

115247

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 Type

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 Laboratory

Northwell Health Laboratories

CPT

81291

PDM

228467

Results
Component Name Base Name Common Name External Name
DNA ISOLATION DNAISOL DNA ISOLATION DNA Isolation
MOLECULAR GENETIC STUDY MOLECGEN MOLECULAR GENETIC STUDY Molecular Genetic Study
MTHFR ITRP MTHFR MTHFR ITRP MTHFR ITRP
RES MTHFR MTHFR RES MTHFR RES MTHFR