Genetic Test Details
Multiple carboxylase Deficiency: Biotinidase Deficiency
Test Information
- Titre
- Multiple carboxylase Deficiency: Biotinidase Deficiency
- Catégorie
- Metabolic
- Sub Category
- Organic Acid Disorders
- Gene/Platform/Region List
- BTD
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
- Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency
Dernière Mise à Jour: 18 juin 2025