GTR Test Accession:
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GTR000500617.5
Last updated in GTR: 2022-08-11
View version history
GTR000500617.5, last updated: 2022-08-11
GTR000500617.4, last updated: 2021-08-06
GTR000500617.3, last updated: 2018-01-12
GTR000500617.2, last updated: 2014-02-07
GTR000500617.1, last updated: 2014-02-07
Last annual review date for the lab: 2024-01-18
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At a Glance
Test purpose:
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Diagnosis
Conditions (2):
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Ataxia-telangiectasia syndrome; Fanconi anemia
Human genome
Methods (1):
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Cytogenetics - Chromosome breakage studies: G-banding
Target population: Help
Not provided
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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- Amniocytes
- Amniotic fluid
- Bone marrow
- Chorionic villi
- Cord blood
- Peripheral (whole) blood
- Skin
- View specimen requirements
Who can order: Help
- Health Care Provider
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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Contact laboratory for ordering requirements
Order URL
Order URL
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:
Test Order Code,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Chromosome breakage studies
G-banding
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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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For Fanconi Anemia: The average # of breaks for a normal control is 0.03 and the average # of breaks for an affected case is 3.7. For Ataxia telangiectasia: The average # of breaks for a normal control is 0.25 and the average # of breaks for an affected case …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
Method used for proficiency testing: Help
Intra-Laboratory
No
Method used for proficiency testing: Help
Intra-Laboratory
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:
IMPORTANT NOTE:
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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.