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Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel … see more Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes)  see less
Clinical Genetic Test
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offered by
Genesys Diagnostics
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GTR Test Accession: Help GTR000607981.1
CAP
INHERITED DISEASECANCERSYNDROMIC DISEASE ... View more
Registered in GTR: 2023-08-15
View version history
Last annual review date for the lab: 2024-07-05 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (52): Help
Neuroblastoma, susceptibility to, 3; BAP1-related tumor predisposition syndrome; Beckwith-Wiedemann syndrome more...
Genes (44): Help
AIP (11q13.2); ALK (2p23.2-23.1); APC (5q22.2); BAP1 (3p21.1); CDC73 (1q31.2) more...
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The GDI Inherited Cancer Sequencing Panels are recommended for patients …
Clinical validity: Help
Not provided
Clinical utility: Help
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Genesys Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Nurse Practitioner
Test Order Code: Help
NGSNE
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 52
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 44
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Predictive risk information for patient and/or family members
View citations (1)
  • LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet Med. 2020;22(2):407-415. doi:10.1038/s41436-019-0633-8. Epub 2019 Aug 13. PMID: 31406321.

Target population: Help
The GDI Inherited Cancer Sequencing Panels are recommended for patients with a personal or family history of cancer or have a family member that has been positively screened for a variant implicated in cancer in a gene that is covered by this panel.
Recommended fields not provided:
Clinical validity, 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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The GDI Inherited Cancer Sequencing Nervous System and Endocrine Cancer Panel sequences 44 genes and was validated with a sensitivity and specificity of 100% and 100%, respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information (legacy) Help
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.