Genetic TestsBiotinidase Deficiency (BTD Gene)

• Test Name: Biotinidase Deficiency (BTD Gene)
• Test Code: 4823

• Biotinidase deficiency (OMIM #: 253260) || Gene: BTD (OMIM #: 609019)

• Biotinidase
• Multiple Carboxylase Deficiency
• BTD Gene Mutations

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 1 week

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Inborn Errors of Metabolism