Maple Syrup Urine Disease, Plasma (Sendout)
General Information
Lab Name
Maple Syrup Urine Disease, Plasma (Sendout)
Lab Code
RMSUDP
Epic Name
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
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 componentsRef. 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 |
Ordering & Collection
Specimen Type
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
Centrifuge sample and transfer plasma/serum to a separate plastic vial within one hour of collection. Freeze plasma/serum at -20°C.
Sendouts:
- Order SEACHL 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 Laboratories
206-987-2617 4800 Sand Point Way NE |
Room Number: FB.2.441 |
|---|
Frequency
Performed: Monday - Friday. Turnaround Time: Up to 2 days from sample receipt at Seattle Children's Hospital Laboratory.
Available STAT?
No