Genetic Test Details
Multiple carboxylase Deficiency: Biotinidase Deficiency
Test Information
- Title
-
Multiple carboxylase Deficiency: Biotinidase Deficiency
- Category
- Metabolic
- Sub Category
-
Organic Acid Disorders
- Gene/Platform/Region List
-
BTD
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- 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
Last Updated: November 26, 2025