Homocystinuria
Test Information
- Titre
-
Homocystinuria
- Catégorie
- Metabolic
- Test Name (CMS Title)
-
Amino Acid Disorders
- Gene/Platform/Region List
-
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR
- Test type
- Samples Accepted
- Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Adenosine Kinase Deficiency, SAH Deficiency, Cystathionine Beta-Synthase Deficiency, Homocystinuria, Glycine N-Methyltransferase Deficiency, MAT Deficiency, Citrin Deficiency, Methylenetetrahydrofolate Reductase Deficiency, CblE, CblG
Dernière Mise à Jour: 09 décembre 2025