Test Code FABRZ Fabry Disease, Full Gene Analysis, Varies
Ordering Guidance
The recommended first-tier test for males with suspected Fabry disease is alpha-galactosidase A enzyme activity in blood or serum. Order either AGAW / Alpha-galactosidase, Leukocytes or AGAS / Alpha-galactosidase, Serum.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) tube or yellow top (ACD) tube
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Acceptable:
Specimen Type: Blood spot
Supplies: Card - Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: Ahlstrom 226 filter paper, or Blood Spot Collection Card
Specimen Volume: 2 to 5 Blood spots on collection card
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year of age is finger stick.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions.
Useful For
Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity
Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively
Testing Algorithm
The following algorithms are available in Special Instructions:
-Fabry Disease: Newborn Screen-Positive Follow-up
-Fabry Disease Diagnostic Testing Algorithm
For more information, see Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A in Special Instructions.
Special Instructions
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Fabry Disease Diagnostic Testing Algorithm
- Fabry Disease: Newborn Screen-Positive Follow-up
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection Instructions
Method Name
Polymerase Chain Reaction (PCR) followed by DNA Sequencing
Reporting Name
Fabry Disease Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
Blood: 1 mL
Blood Spots: 5 punches-3 mm diameter
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
14 to 20 daysPerforming Laboratory

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 US Food and Drug Administration.CPT Code Information
81405-GLA (galactosidase, alpha) (eg, Fabry disease), full gene sequence
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
FABRZ | Fabry Disease Full Gene Analysis | 76036-3 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
53894 | Result Summary | 50397-9 |
53895 | Result | 76036-3 |
53896 | Interpretation | 69047-9 |
53897 | Additional Information | 48767-8 |
53898 | Specimen | 31208-2 |
53899 | Source | 31208-2 |
53900 | Released By | 18771-6 |