Test Code AGABS Alpha-Galactosidase, Blood Spot
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
Whole bloodOrdering Guidance
If testing needed for assessment of meat or meat-derived product allergy, order either ALGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal), IgE, Serum or APGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal) Mammalian Meat Allergy Profile, Serum.
Carrier detection using enzyme levels is unreliable for female patients as results may be within the normal values. Order FABRZ / Fabry Disease, Full Gene Analysis, Varies for testing carrier status.
Additional Testing Requirements
Additional studies including molecular genetic analysis of the GLA gene (FABRZ / Fabry Disease, Full Gene Analysis, Varies) are recommended to detect carriers.
Necessary Information
Provide a reason for testing with each specimen.
Specimen Required
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood spot collection card
Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper 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 older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
3. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Minimum Volume
1 Blood spot
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | 90 days | FILTER PAPER |
Frozen | 90 days | FILTER PAPER | |
Refrigerated | 90 days | FILTER PAPER |
Reference Values
Males: ≥1.2 nmol/mL/hour
Females: ≥2.8 nmol/mL/hour
An interpretive report will be provided.
Day(s) Performed
Thursday
CPT Code Information
82657
Report Available
8 to 15 daysSpecimen Retention Time
1 yearReject Due To
Shows serum rings Multiple layers | Reject |
Genetics Test Information
This test provides diagnostic testing for male patients with positive newborn screen results, positive family history, or clinical signs and symptoms suspicious for Fabry disease.