Homocystinuria: Hypomethioninemia

Test Information

Title
Homocystinuria: Hypomethioninemia
Category
Metabolic
Test Name (CMS Title)
Amino Acid Disorders
Gene/Platform/Region List
MTHFR, MTR, MTRR
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Hypomethioninemia, homocystinuria

Last Updated: November 14, 2025