Severe MTHFR Deficiency via the MTHFR Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of severe MTHFR deficiency. It is applicable for those with biochemical features such as hyperhomocysteinemia, homocystinuria, low/normal plasma methionine levels, and elevated plasma S-adenosylhomocysteine and cystathionine. Additionally, it's relevant for reproductive partners of individuals known to carry a pathogenic variant in the MTHFR gene.
Special Instructions
Not provided.
Limitations
The test does not include analysis of the common variants c.665C>T (C677T) and c.1286A>C (A1298C) in the MTHFR gene. It is also not suitable for confirming the presence or absence of these common MTHFR variants.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided