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HelpTest Code FABRZ Fabry Disease, Full Gene Analysis, Varies
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:
-Fabry Disease: Newborn Screen-Positive Follow-up
-Fabry Disease Diagnostic Testing Algorithm
If the patient has abnormal newborn screening results for Fabry disease, refer to the appropriate American College of Genetics and Genomics Newborn Screening ACT Sheet.(1)
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
- Hereditary Peripheral Neuropathy Diagnostic Algorithm
- Blood Spot Collection Card-Spanish Instructions
- 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
VariesOrdering 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 Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) tube or yellow top (ACD) tube
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate
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. Due to lower concentrations of DNA yielded from blood spots, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be needed to complete testing.
2. For collection instructions, see Blood Spot Collection Instructions
3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected alterations will be evaluated according to the American College of Medical Genetics and Genomics recommendations.(2) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. ACMG Newborn Screening ACT Sheets. Accessed September 25, 2024. Available at www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508
2. Hwu WL, Chien YH, Lee NC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A). Hum Mutat. 2009:30(10):1397-1405
3. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
4. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30
5 Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9(1):34-35
6. Henderson N, Berry L, Laney DA. Fabry Disease practice resource: Focused revision. J Genet Couns. 2020;29(5):715-717
Day(s) Performed
Varies
Report Available
14 to 20 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
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
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 |
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. Molecular Genetics: Biochemical Disorders Patient Information (T527).
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.