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Test #


Test CPT Codes


Maple Syrup Urine Disease (MSUD) Amino Acids (Valine, Leucine, Isoleucine, and Allo-Isoleucine only)

Test Type

Biochemical Genetics

Test Disease / Components

Maple Syrup Urine Disease (MSUD)

Test Technology

High Pressure Liquid Chromatography (HPLC)

Clinical Utility

Diagnostic, Follow up

Test Specimen


Requirements :

  • Fasting preferred

  • 3 mL ; Minimum : 0.5 mL

Specimen Collection :

  • Sodium heparin (preferred)

  • Lithium heparin (acceptable)

  • Plasma should be separated within 2 hours of collection

Specimen Shipment and Storage:

  • Plasma should be shipped frozen (-15 to -25 °C)

  • Specimen should not be left at room temperature for more than 2 hours

Storage and Stability

Turnaround Time (TAT)

48-72 hours, priority given to critically ill patients and infants less than one year of age

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