Genetic Test Details
Multiple Carboxylase Deficiency
Test Information
- Title
- Multiple Carboxylase Deficiency
- Category
- Metabolic
- Sub Category
- Organic Acid Disorders
- Gene/Platform/Region List
- CA5A, HLCS, BTD
- 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
- Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency
Last Updated: June 23, 2025