Genetic Test Details
Homocystinuria
Test Information
- Titre
- Homocystinuria
- Catégorie
- Metabolic
- Sub Category
- Amino Acid Disorders
- Gene/Platform/Region List
- ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- 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: 18 juin 2025