Stanford Hospital & Clinics and Lucile Packard Children’s Hospital
Test Name : Maple Syrup Urine Disease Order Code : 11555R
Note: This is a Sendout/Referred Test and is only offered to registered patients of SHC or LPCH.
Synonyms: BCKD Complex Sequencing; MSUD
Specimen Type: Whole Blood
Container Type: Lavender-top tube (EDTA) or Yellow-top tube Acid Citrate Dextrose Solution A (ACD)
Required Volume: Infants (<2 years): 2-3 mL; Children (>2 years): 3-5 mL; Older Children & Adults: 5-10 mL
Methodology: Gas chromatography/mass spectrometry (GC/MS), BCKD Assay
Standard Run Times: Mon-Fri
Turnaround Time: 44 days
Special Handling: Ship at room temperature. Please submit copies of diagnostic biochemical test results along with the sample. Contact the laboratory if further information is needed. Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of Emory Genetics Laboratory, please submit a copy of the sequencing report with the test requisition.
CPT Codes: 81479
SHC EPIC Code: LAB11555R
Department: Sendouts
Clinical Specialties: Genetics
Sendout Lab: Emory Genetics Laboratory
Sendout Lab Test Code: SB