Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000528591.5
Last updated in GTR:
2020-01-31
View version history
GTR000528591.5,
last updated:
2020-01-31
GTR000528591.4,
last updated:
2019-10-25
GTR000528591.3,
last updated:
2019-10-16
GTR000528591.2,
last updated:
2019-09-12
GTR000528591.1,
registered in GTR:
2017-10-09
Last annual review date for the lab: 2024-07-01
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment
Conditions (33):
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Congenital dyserythropoietic anemia, type I;
Anemia, nonspherocytic hemolytic, due to G6PD deficiency;
Autoimmune lymphoproliferative syndrome type 4
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Genes (34):
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Methods (1):
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Molecular Genetics - Sequence analysis of select exons: 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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Single-gene testing of any gene on the panel is available.
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: 33
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 34
| 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 select exons
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The next generation sequencing panel detects 70-99% of the reported mutations in these genes using this testing methodology. Many genes on this panel result in rare or overlapping phenotypes, and the clinical sensitivity of gene sequencing has not been determined. The clinical sensitivity of single gene testing is dependent on …
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Assay limitations:
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Large exonic deletions, duplications, or insertions have been reported in several of these genes. Deletion/duplication analysis may be indicated as a follow-up test in patients with a single mutation in one of these genes, or in patients with normal Hemolytic Anemia Panel analysis.
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.