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CPE-009 · Classification
B12-12: Raised homocysteine with adequate B12 and folate
Raised homocysteine with adequate B12 and folate. Evaluates homocysteine above 15 µmol/L.
Active rulePriority 5B12 engine v1.0.0
Condition
- homocysteine > 15 µmol/L
- vitamin B12 above 300 pg/mL
- folate adequate
What it reports
- Consider other contributors to hyperhomocysteinemia: reduced kidney function, hypothyroidism, vitamin B6 deficiency, drugs
Never outputs
- a recommendation for MTHFR genotyping
Diagnostic boundary
- The ACMG finds no evidence supporting MTHFR polymorphism testing.
Evidence
- EV-ACMG-MTHFR-2013Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013;15(2):153-156.Supports: MTHFR polymorphism testing is not supported for hyperhomocysteinemia or thrombophilia work-up
Cases where this rule fires
Open a case to see this rule fire with real inputs, then change the values until it stops.
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