Maple Syrup Urine Disease, Plasma (Sendout)
General Information
- Lab Name
- Maple Syrup Urine Disease, Plasma (Sendout)
- Lab Code
- RMSUDP
- Epic Ordering
- Maple Syrup Urine Disease, Plasma (Sendout)
- External Test Id
- LAB1956
- Description
Clinical Utility: Used for diagnosis and dietary monitoring of patients with maple syrup urine disease. This panel includes Valine, Isoleucine, Leucine, and Alloisoleucine.
Ordering Requirements: Include relevant clinical information (drug therapy, family history, etc.) in the Epic order comment to ensure proper interpretation.
- References
- Seattle Children's Hospital Laboratory Test: Maple Syrup Urine Disease
- Forms & Requisitions
- Seattle Children's Hospital Laboratory Biochemical Genetics Requisition (DLMP use only)
- Synonyms
- Alloisoleucine, Branched Chain Amino Acids, Isoleucine, LAB1956, Leucine, MSUD, Valine
- Components
-
Code Name RVALN Valine RALEU Alloisoleucine RILE Isoleucine RLEU Leucine RMSUDC Maple Syrup Urine Disease Comment RMSUDL Maple Syrup Urine Disease Performing Lab
Interpretation
- Method
Ion exchange chromatography with post column ninhydrin derivatization
- Reference Range
- See individual components
- Ref. Range Notes
Reference Ranges:
Age 0-Up to 1 mo 1 mo - 5 yr 6 yr - Adult Valine (mcmol/L) 70 - 300 75 - 350 120 - 300 Isoleucine (mcmol/L) 20 - 90 27 - 120 30 - 110 Leucine (mcmol/L) 50 - 193 45 - 160 60 - 200 Alloisoleucine (mcmol/L) Not present Not present Not present - References
- Seattle Children's Hospital Laboratory Test: Maple Syrup Urine Disease
Ordering & Collection
- Specimen Type
- Blood
- Collection
-
3 mL blood in DARK GREEN (Na Heparin) or LIME GREEN PST (Lithium Heparin)
Also Accepted: RED or LAVENDER TOP (EDTA) tube. Note: Serum or EDTA plasma is acceptable, but not preferred.
- Forms & Requisitions
- Seattle Children's Hospital Laboratory Biochemical Genetics Requisition (DLMP use only)
- Handling Instructions
Outside Laboratories: Centrifuge sample and transfer plasma/serum to a separate plastic vial within one hour of collection. Freeze plasma/serum at -20°C while awaiting shipment. Transport on dry ice.
- Optional: To ensure proper interpretation, include relevant clinical information (drug therapy, and family history) on the UW DLMP requisition.
Stability: Frozen (preferred): 1 month; Refrigerated: 24 hours; Ambient: 2 hours.
- Quantity
-
requested: 1 mL plasma or serum
minimum: 0.5 mL plasma or serum
Processing
- Processing
Centrifuge sample and transfer plasma/serum to a separate plastic vial within one hour of collection. Freeze plasma/serum at -20°C.
Sendouts:
- Order SCHL Test: LAB1956.
- Interfaced: No.
- If clinical information (drug therapy, family history) is included in the order, print the Epic requisition and send it with a copy of the SCH Requisition.
- Send samples on dry ice via DLMP or DE courier.
Stability: Frozen: 1 month; Refrigerated: 24 hours; Ambient: 2 hours.
Performance
- LIS Dept Code
- Sendouts (SO)
- Performing Location(s)
-
Sendout Seattle Children's Hospital Department of Laboratories
206-987-26174800 Sand Point Way NE
OC.8.720
Seattle, WA 98105 - Frequency
- Performed: Monday - Friday. Turnaround Time: Up to 2 days from sample receipt at Seattle Children's Hospital Laboratory.
- Available STAT?
- No
Billing & Coding
- CPT codes
- 82136
- LOINC
- 94566-7