GTR Test Accession:
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GTR000504352.5
Last updated in GTR: 2021-01-12
View version history
GTR000504352.5, last updated: 2021-01-12
GTR000504352.4, last updated: 2020-01-16
GTR000504352.3, last updated: 2017-01-23
GTR000504352.2, last updated: 2014-01-24
GTR000504352.1, last updated: 2014-01-24
Last annual review date for the lab: 2024-01-08
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At a Glance
Test purpose:
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Diagnosis
Conditions (15):
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Fanconi anemia complementation group D1;
Fanconi anemia complementation group A;
Fanconi anemia complementation group B
more...
Methods (1):
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Cytogenetics - Chromosome breakage studies: Chromosome breakage studies
Target population: Help
Individuals considered at risk for a child with Fanconi Anemia.
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniotic fluid
- Chorionic villi
- Fibroblasts
Test Order Code:
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17455
Lab contact:
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Meredith Masiello, MS, Certified Genetic counselor, CGC, Genetic Counselor
866-GENEINFO
866-GENEINFO
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.
How to Order:
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Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test strategy,
Test development
Conditions
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Total conditions: 15
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 15
Chromosomal region/Mitochondrion | Associated condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Chromosome breakage studies
Chromosome breakage studies
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Individuals considered at risk for a child with Fanconi Anemia.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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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Analytical validity and specificity >98%; Diagnostic test for affected fetuses and individuals; not gene-specific
View citations (1)
- Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668(1-2):4-10. doi:10.1016/j.mrfmmm.2009.01.013. Epub 2009 Feb 28. PMID: 19622403.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
PT Provider: Help
Internal Program (semi annual)
Yes
Method used for proficiency testing: Help
Intra-Laboratory
PT Provider: Help
Internal Program (semi annual)
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.