GTR Test Accession:
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GTR000568367.3
Last updated in GTR: 2020-08-10
View version history
GTR000568367.3, last updated: 2020-08-10
GTR000568367.2, last updated: 2020-08-06
GTR000568367.1, last updated: 2019-08-14
Last annual review date for the lab: 2023-07-28
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Fabry disease
Genes (1):
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GLA (Xq22.1)
Methods (2):
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Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; ...
Target population: Help
Not provided
Clinical validity:
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The sequencing of coding region of the GLA gene and …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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Fabry disease
Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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2688
Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical validity:
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The sequencing of coding region of the GLA gene and intronic region that contains c.640-859C>T and c.640-801G>A variants, allows the identification of pathogenic variants causing Fabry disease in approximately 95% of cases. In Fabry disease, to date more than 900 variants in GLA gene have been identified.
View citations (1)
- Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?. Int J Mol Sci. 2018;19(12). doi:10.3390/ijms19123726. Epub 2018 Nov 23. PMID: 30477121.
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- [Transluminal aortic valvuloplasty in a patient with severe aortic stenosis and double congenital mitral lesion]. Medina A, et al. Rev Esp Cardiol. 1987;40(2):142-4. PMID: 2953053.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Decline to answer.
Decline to answer.
Recommended fields not provided:
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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One sample of a patient with Fabry disease and known genotype, and samples of control subjects were analyzed. 100% of the samples were genotyped correctly. Sanger sequencing analysis approaches an analytical sensitivity of almost 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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