HEX4, urine




Test Mnemonic

UHEX4

CPT Codes

  • 82542 - QTY (1)
  • 82570 - QTY (1)

Aliases

  • Glycogen storage disease type II
  • Pompe disease

Includes

  • HEX4 (Glc4)

Performing Laboratory

Duke University Hospital


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
1 mLUrine, randomClean container FrozenFasting sample preferred. Send completed UHEX4 Patient Information Form with specimen.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
0.25 mL     

Stability

Environmental Condition Description
FrozenAcceptable
Refrigerated24 hours
Ambient4 hours

Days Performed

Mon - Fri

Turnaround Time

15 - 16 days

Methodology

Name Description
Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS) 

Special Info

Fasting sample preferred. Send completed UHEX4 Patient Information Form with specimen.

Clinical Info

This test is useful to monitor patients with Pompe disease (GSD II) on enzyme replacement therapy. It is also useful for the diagnosis of Pompe disease when performed in conjunction with the blood acid alpha glucosidase enzyme assay. The reported Hex4 value in this assay is a measure of Glc4.

Clinical Limitation

Hex4 may be elevated in a number of pathological and physiological conditions and is not specific to Pompe disease.