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Test Code LAB1956 Maple Syrup Urine Disease

Clinical System Name

Maple Syrup Urine Disease

Synonyms

Amino Acid MSUD monitoring

Branched Chain Amino Acids

MSUD

Sample Requirements

Specimen:Whole Blood

Container(s):Dark Green/Sodium Heparin, Lt. Green/ Lithium Heparin

Preferred Vol:1 mL

Minimum Vol: 0.5 mL

 

Note: Serum or EDTA plasma is acceptable but not preferred.

 

Processing Instructions

Reject due to:

Spin: Y

Aliquot: Y

Temp: -20 C

Storage location: -20 C BCG box

 

Off-site collection: Spin and separate serum/plasma within 1 hr collection. Freeze serum/plasma  ship frozen.

Stability

Temperature Time
Room temp (whole blood) < 1 hr
Room temp (serum/plasma) ≤2 hr
Refrigerated (serum/plasma) 24 hrs
Frozen (serum/plasma) 1 month

 

Availability

STAT Performed TAT
N M-F up to 2 days

 

Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.

Department

Department: Biochemical Genetics

Phone: 206-987-2216

 

CPT Codes

82136

Methodology

Method: Ion exchange chromatography with post column ninhydrin derivatization

Analytical Volume: 0.1 mL plasma

Limitations:

 

Note: Test includes Valine, Isoleucine, Leucine, and Alloisoleucine

Reference Range

Age 0 - 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

 

Clinical Utility

Used for diagnosis and dietary monitoring of patients with maple syrup urine  disease.

Requisition

Biochemical Genetics Requisition

 

On the requisition include clinical information needed for appropriate interpretation.  (Age, gender, diet (e.g. TPN therapy), drug therapy and family history)

Special Instructions

Links to:

Consent Forms

Algorithms