Biotinidase Deficiency (BTD gene)

Test Information

Titre
Biotinidase Deficiency (BTD gene)
Lab
Catégorie
Metabolic
Test Name (CMS Title)
Biotinidase Deficiency
Gene/Platform/Region List
BTD
Test type
Single Gene
Samples Accepted
Blood, DNA, Buccal Swab, Saliva
Indications
Diagnostics, 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

Dernière Mise à Jour: 09 décembre 2025