Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000501117.9
Last updated in GTR:
2021-03-10
View version history
GTR000501117.9,
last updated:
2021-03-10
GTR000501117.8,
last updated:
2020-09-09
GTR000501117.7,
last updated:
2019-09-12
GTR000501117.6,
last updated:
2018-10-04
GTR000501117.5,
last updated:
2014-11-26
GTR000501117.4,
last updated:
2014-10-21
GTR000501117.3,
last updated:
2014-06-06
GTR000501117.2,
last updated:
2013-11-27
GTR000501117.1,
registered in GTR:
2013-11-27
Last annual review date for the lab: 2024-07-01
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (22):
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Fanconi anemia, complementation group S;
Fanconi anemia;
Fanconi anemia complementation group A
more...
Genes (21):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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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Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
View lab's website
View lab's test page
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.
How to Order:
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Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Test strategy:
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Chromosome breakage can be ordered sequentially along with molecular genetic testing. https://www.cincinnatichildrens.org/service/d/diagnostic-labs/cytogenetics/fanconi-anemia
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,
Specimen source,
Test development
Conditions
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Total conditions: 22
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 21
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
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
Test Comments:
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Please see test requisition for information about reflex deletion/duplication analysis by array comparative genomic hybridization (aCGH).
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The analytic sensitivity of this methodology is >99%.
Assay limitations:
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Mutations in regulatory regions or other untranslated regions are not detected by this test. Large deletions involving entire single exons or multiple exons, large insertions and genetic recombinational events may not be identified using these methods. Rare primer site variants may lead to erroneous results.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation,
Citations to support 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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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
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.