GTR Test Accession:
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GTR000596659.2
Last updated in GTR:
2024-10-04
View version history
GTR000596659.2,
last updated:
2024-10-04
GTR000596659.1,
registered in GTR:
2021-11-10
Last annual review date for the lab: 2024-12-06
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Conditions (1):
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Basan syndrome
Genes (1):
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SMARCAD1 (4q22.3)
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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Specimen Source:
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- Dried blood spot (DBS) card
- Isolated DNA
- Peripheral (whole) blood
- Saliva
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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Informed consent required:
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Yes
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 Order Code,
Lab contact for this test,
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: 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;
Mutation Confirmation;
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 analytical validity for this analysis is 99%.
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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Category:
Not Applicable
Additional Information
Reviews:
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.