Test Name & Code:
• Test Name: Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes)
• Test Code: 2929
• Test Code: 2929
Related Diseases & Genes:
• “Maple syrup urine disease, type Ia” (OMIM #: 248600) || Gene: BCKDHA (OMIM #: 608348)
• “Maple syrup urine disease, type Ib” (OMIM #: 248600) || Gene: BCKDHB (OMIM #: 248611)
• “Maple syrup urine disease, type II” (OMIM #: 248600) || Gene: DBT (OMIM #: 248610)
• “Maple syrup urine disease, type Ib” (OMIM #: 248600) || Gene: BCKDHB (OMIM #: 248611)
• “Maple syrup urine disease, type II” (OMIM #: 248600) || Gene: DBT (OMIM #: 248610)
Synonyms:
• MSUD
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks
• Performed: Everyday
• Reported: 2-3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism
