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Test Code GAAW Acid Alpha-Glucosidase, Leukocytes


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.


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.

Useful For

Diagnosis of Pompe disease

Genetics Test Information

This test provides diagnostic testing for individuals with decreased alpha-glucosidase activity on newborn screen or clinical signs and symptoms suspicious for Pompe disease.

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.

Reporting Name

Acid Alpha-Glucosidase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen 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.

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Assay performed: Monday, Wednesday

Report Available

5 to 9 days

Specimen Retention Time

WBC homogenate: 1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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