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Test Code GAABS Acid Alpha-Glucosidase, Blood Spot

Reporting Name

Acid Alpha-Glucosidase, BS

Useful For

Evaluation of patients of any age with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy)

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole blood

Specimen Required

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood spot collection card(T493)

Acceptable: Ahlstrom 226 Filter Paper, Munktell TFN, and Whatman Protein Saver 903 Paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. Do not use device or capillary tube containing EDTA to collect specimen.

2. An alternative blood collection option for a patient >1 year of age is fingerstick.

3. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information: For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.


Additional Testing Requirements:

Molecular genetic testing of the GAA gene (GAAZ / Pompe Disease, Full Gene Analysis) can be used to determine carrier, pseudodeficiency, or disease status.

 

Pseudodeficiency results in low measured GAA, but is not consistent with Pompe disease; GAAZ / Pompe Disease, Full Gene Analysis should be performed to resolve the clinical question.



Necessary Information:

Provide a reason for referral and clinical indication with each specimen.


Specimen Minimum Volume

1 blood spot

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred) 87 days
  Frozen  87 days
  Refrigerated  87 days

Reference Values

Normal >0.5 nmol/mL/hour

Day(s) and Time(s) Performed

Set up Wednesday; report Thursday morning

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GAABS Acid Alpha-Glucosidase, BS In Process

 

Result ID Test Result Name Result LOINC Value
30100 Reason For Referral 42349-1
30149 Acid alpha-glucosidase 55827-0
30102 Interpretation (GAABS) 59462-2
30104 Reviewed By No LOINC Needed

Method Name

Fluorometric Enzyme Assay

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)

3. Biochemical Genetics Patient Information (T602) in Special Instructions