Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000553502.2
Last updated in GTR: 2023-02-08
View version history
GTR000553502.2, last updated: 2023-02-08
GTR000553502.1, last updated: 2022-10-03
Last annual review date for the lab: 2024-09-13
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic;
Risk Assessment; ...
Conditions (100):
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Alagille syndrome due to a NOTCH2 point mutation;
Acromesomelic dysplasia 3;
Alagille syndrome due to a JAG1 point mutation
more...
Genes (86):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: 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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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's website
View lab's test page
View lab's website
View lab's test page
Specimen Source:
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- Cord blood
- Isolated DNA
- Peripheral (whole) blood
- Saliva
Test Order Code:
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LUNGX
CPT codes:
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Lab contact:
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DGD GeneticCounselor, Genetic Counselor
DGDGeneticCounselor@chop.edu
DGDGeneticCounselor@chop.edu
How to Order:
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Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL
Order URL
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Contact policy,
Test strategy
Conditions
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Total conditions: 100
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 86
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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;
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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Analytical sensitivity and specificity for sequencing and copy number variants is ~99%. It may be lower for technically difficult genomic regions. Please see our test menu entry for test-specific information.
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:
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.