Severe MTHFR Deficiency via the MTHFR Gene

Casandra

Casandra Test Code PG50045Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 7291CPT Code 81479

Severe MTHFR Deficiency via the MTHFR Gene

Clinical Use

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

This test is not designed to confirm the presence or absence of common MTHFR variants c.665C>T and/or c.1286A>C, also known as C677T and A1298C.

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.

Test Details

Methodology

NGS

Biomarkers

This test uses Next Generation Sequencing with Copy Number Variant analysis on an Exome or Genome platform to assess the MTHFR gene for severe deficiency.

NGS with CNV