GTR Test Accession:
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GTR000591371.2
Last updated in GTR:
2023-10-19
View version history
GTR000591371.2,
last updated:
2023-10-19
GTR000591371.1,
registered in GTR:
2020-08-13
Last annual review date for the lab: 2024-10-22
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At a Glance
Test purpose:
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Screening
Conditions (4):
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Deafness, congenital heart defects, and posterior embryotoxon;
Alagille syndrome due to a JAG1 point mutation;
Charcot-Marie-Tooth disease, axonal, Type 2HH
more...
Genes (1):
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JAG1 (20p12.2)
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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Who can order: Help
- Health Care Provider
How to Order:
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informed consent and requisition form
Order URL
Order URL
Test additional service:
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Custom mutation-specific/Carrier testing
OrderCode: Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
OrderCode: Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required:
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Yes
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,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 4
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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Screening
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
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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This test is greater than 99% sensitive for detecting substitution variants in the sequence analyzed.
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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Not provided
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.