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HelpTest Code AGABS Alpha-Galactosidase, Blood Spot
Reporting Name
Alpha-Galactosidase, BSUseful For
Diagnosis of Fabry disease in male patients using blood spot specimens
Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease
Follow-up to an abnormal newborn screen for Fabry disease
This test is not useful for patients undergoing a workup for a meat or meat-derived product allergy.
Testing Algorithm
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.
The following algorithms are available:
-Fabry Disease Diagnostic Testing Algorithm
-Fabry Disease: Newborn Screen-Positive Follow-up
If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen 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 |
Special Instructions
- Informed Consent for Genetic Testing
- Fabry Disease Diagnostic Testing Algorithm
- Fabry Disease: Newborn Screen-Positive Follow-up
- Biochemical Genetics Patient Information
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection Instructions
Reference Values
Males: ≥1.2 nmol/mL/hour
Females: ≥2.8 nmol/mL/hour
An interpretive report will be provided.
Day(s) Performed
Thursday
Test 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 |
|---|---|---|
| AGABS | Alpha-Galactosidase, BS | 55908-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 50883 | Specimen | 31208-2 |
| 50884 | Specimen ID | 57723-9 |
| 50885 | Source | 31208-2 |
| 50886 | Order Date | 82785-7 |
| 50887 | Reason For Referral | 42349-1 |
| 50888 | Method | 85069-3 |
| 50889 | Alpha-Galactosidase, BS | 55908-8 |
| 50890 | Interpretation | 59462-2 |
| 50891 | Amendment | 48767-8 |
| 50892 | Reviewed By | 18771-6 |
| 50893 | Release Date | 82772-5 |
Report Available
8 to 15 daysMethod Name
Fluorometric Enzyme Assay
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.