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HelpTest Code GAAW Acid Alpha-Glucosidase, Leukocytes
Reporting Name
Acid Alpha-Glucosidase, LeukocytesPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Diagnosis of Pompe disease
Method Name
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Shipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Type
Whole Blood ACDSpecimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 6 days | |
| Ambient | 6 days |
Reject Due To
| Gross hemolysis | Reject |
Reference Values
≥1.50 nmol/hour/mg protein
An interpretive report is provided.
Interpretation
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro, confirmatory studies (enzyme assay, molecular analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Day(s) Performed
Preanalytical processing: Monday through Saturday.
Assay performed: Monday, Wednesday
Report Available
5 to 9 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| GAAW | Acid Alpha-Glucosidase, Leukocytes | 24051-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606267 | Acid Alpha-Glucosidase, Leukocytes | 24051-5 |
| 606268 | Interpretation | 59462-2 |
| 606269 | Reviewed By | 18771-6 |
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Testing Algorithm
For testing algorithm information see Newborn Screen Follow-up for Pompe Disease.
For Newborn Screening ACT Sheet for Pompe Disease (Glycogen Storage Disease Type II) information, visit www.acmg.net/PDFLibrary/Pompe.pdf.