Test #

501

Test CPT Codes

82139

Amino acids (full profile; plasma, urine or CSF)

Test Type

Biochemical Genetics

Test Disease

Inborn Errors of Metabolism

Test Technology

High Pressure Liquid Chromatography (HPLC)

Clinical Utility

Diagnostic, Follow up

Test Specimen

Plasma


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


Urine (Only for Full Amino Acid Profile)


Requirements:

  • First morning urine preferred

  • 2 mL; Minimum: 1 mL

Collection:

  • Random urine. Avoid dilute urine when possible

Specimen Shipment and Storage:

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

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


CSF (Only for Full Amino Acid Profile)


Requirements:

  • 0.5 mL; Minimum: 0.3 mL

Specimen collection

  • Sterile vial

  • Centrifuge CSF to separate and remove cellular material and blood contamination and aliquot supernatant

Specimen Shipment and Storage:

  • CSF must be transported frozen

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

  • Stored at -80 °C in lab

Test Storage

  • See TRF specimen info/instructions

Turnaround Time (TAT)

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

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