GAABS - Specimen: Acid Alpha-Glucosidase, Blood Spot

Test Catalog

Test Name

Test ID: GAABS    
Acid Alpha-Glucosidase, Blood Spot

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Newborn Screen Follow-up for Pompe Disease in Special Instructions.

Specimen Type Describes the specimen type validated for testing

Whole blood

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 Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.

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.

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. Biochemical Genetics Patient Information (T602) in Special Instructions

Specimen Minimum Volume The amount of sample necessary to provide a clinically relevant result as determined by the Laboratory.

1 blood spot

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

Blood spot specimen that shows serum rings or has multiple layers

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperatures are also included.

Specimen TypeTemperatureTime
Whole bloodAmbient (preferred)87 days
 Frozen 87 days
 Refrigerated 87 days