Genetic Test Details

Biotinidase Deficiency (BTD gene)

Test Information

Title
Biotinidase Deficiency (BTD gene)
Category
Metabolic
Sub Category
Biotinidase Deficiency
Gene/Platform/Region List
BTD
Test type
Single Gene
Samples Accepted
DNA , Saliva , Blood , Cultured Cells , Buccal Swab
Indications
Carrier Cascade Testing , Diagnosis , 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

Last Updated: June 23, 2025