Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000613108.1
Registered in GTR:
2023-11-30
View version history
GTR000613108.1,
registered in GTR:
2023-11-30
Last annual review date for the lab: 2024-09-13
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Drug Response;
Monitoring; ...
Conditions (2):
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Hematologic neoplasm;
Thiopurine response
Genes (215):
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Methods (3):
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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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- Bone marrow
- Cell culture
- Cerebrospinal fluid
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
Test Order Code:
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COHEM
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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To order a test, complete and submit a requisition form via fax or email. The requisition form can be found on our website.
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: 2
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 215
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 3
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
RNA 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;
Drug Response;
Monitoring;
Prognostic;
Therapeutic management
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= 100%
Analytical specificity = >99%
NOTE: For copy number variants, the validation samples mostly consisted of CNVs encompassing >7 exon CNVs (though we do report CNVs detected that are 3 exons or larger).
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
Reviews:
Clinical resources:
Molecular resources:
Practice guidelines:
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.