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Test Code 7291

Severe MTHFR Deficiency via the MTHFR Gene

MTHFR

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of severe MTHFR deficiency
  • Individuals with biochemical features including hyperhomocysteinemia, homocystinuria, low/normal plasma methionine levels, and elevated plasma S-adenosylhomocysteine and cystathionine
  • Reproductive partners of individuals with a known pathogenic variant in the MTHFR gene
  • This test is NOT for individuals desiring to confirm the presence or absence of the common MTHFR variants c.665C>T and/or c.1286A>C (also known as C677T and A1298C). Please see test limitations.
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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