GTR Test Accession:
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GTR000597216.2
CAP
Last updated in GTR:
2021-12-09
View version history
GTR000597216.2,
last updated:
2021-12-09
GTR000597216.1,
registered in GTR:
2021-12-08
Last annual review date for the lab: 2023-07-26
Past due
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (4):
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Genes (1):
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ABL1 (9q34.12)
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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Test short name:
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NGSHM
Manufacturer's name:
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QIAseq, Thermofisher
Specimen Source:
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- Bone marrow
- Cell culture
- Peripheral (whole) blood
- White blood cell prep
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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Myeloid Neoplasm Sequencing Panel (NGS)
CPT codes:
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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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Please use the lab requisition form to order the test. If any questions, please contact the lab.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test additional service:
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Custom mutation-specific/Carrier testing
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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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
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 select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation;
Prognostic;
Recurrence;
Risk Assessment
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Decline to answer.
Decline to answer.
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
Test Comments:
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Myeloid Neoplasm Sequencing Panel (NGS) Including ABL1 ASXL1 ATM ATRX BCOR BCORL1 BRAF CALR CBL CBLB CDKN2A CEBPA CSF3R DAXX DNMT3A EED EGFR ETV6 EZH2 FBXW7 FLT3 GATA1 GNAS HRAS IDH1 IDH2 IKZF1 JAK1 JAK2 JAK3 KAT6A KIT KMT2A KRAS MPL NF1 NOTCH1 NPM1 NRAS PDGFRA PHF6 PRPF40B PTEN PTPN11 …
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Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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This Myeloid NGS panel can provide:
1. For SNV: >99.9% confidence and 99.6% reliability for 100% sensitivity, specificity, and PPV
2. For Indels: 97.3% confidence and 97% reliability for 100% sensitivity, specificity, and PPV (excluding FLT3 ITD).
View citations (1)
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. Li MM, et al. J Mol Diagn. 2017;19(1):4-23. doi:10.1016/j.jmoldx.2016.10.002. PMID: 27993330.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
IMPORTANT NOTE:
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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.