Genetic Test Details
Biotinidase Deficiency (BTD gene)
Test Information
- Titre
-
Biotinidase Deficiency (BTD gene)
- Catégorie
- Metabolic
- Sub Category
-
Biotinidase Deficiency
- Gene/Platform/Region List
-
BTD
- Test type
- Single Gene
- Samples Accepted
- Blood , DNA , Cultured Cells , Buccal Swab , Saliva
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- 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