GTR Test Accession:
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GTR000570027.2
CAP
Last updated in GTR: 2021-11-11
View version history
GTR000570027.2, last updated: 2021-11-11
GTR000570027.1, last updated: 2021-03-19
Last annual review date for the lab: 2024-02-12
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At a Glance
Test purpose:
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Diagnosis
Conditions (14):
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Alveolar rhabdomyosarcoma; Alveolar soft part sarcoma; Aneurysmal bone cyst; ...
Genes (26):
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ALK (2p23.2-23.1), BCOR (Xp11.4), BRAF (7q34), CCNB3 (Xp11.22), CIC (19q13.2), ...
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The Solid Tumor and Brain Tumor Fusion Panel is designed …
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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SBT fusion panel
Specimen Source:
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- Bone marrow
- Fresh tissue
- Frozen tissue
- Paraffin block
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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Solid and brain tumor fusion panel
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CPT codes:
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Lab contact:
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Marian Harris, PhD, MD, ABPath, Medical Director
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, contact the Laboratory for Molecular Pediatric Pathology for ordering information.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
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 strategy
Conditions
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Total conditions: 14
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 26
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
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)
Illumina MiSeq
Clinical Information
Test purpose:
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Diagnosis
Target population:
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The Solid Tumor and Brain Tumor Fusion Panel is designed to include genes known to be somatically altered in pediatric tumors that may be used to support the diagnosis, prognosis or therapy for patients. The assay uses total nucleic acid (TNA), which is a combination of DNA and RNA, or …
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View citations (1)
- Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 1. Dupain C, Harttrampf AC, Urbinati G, Geoerger B, Massaad-Massade L. Relevance of Fusion Genes in Pediatric Cancers: Toward Precision Medicine. Mol Ther Nucleic Acids. 2017 Mar 17;6:315-26. 2. Wong MK, Ng CCY, Kuick CH, Aw SJ, Rajasegaran V, Lim JQ, et al. Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR-CCNB3 gene fusion. Histopathology. 2018 Jan;72(2):320-9. 3. Zheng Z, Liebers M, Zhelyazkova B, Cao Y, Panditi D, Lynch KD, et al. Anchored multiplex PCR for targeted next-generation sequencing. Nat Med. 2014 Dec;20(12):1479-84. 4. Archer® Analysis 5 User Manual. 5. Technical Note: Fusion Detection in Archer™ Analysis Software. 6. Li MM, Datto, M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimneridou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the As.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Test Procedure:
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Archer DX Fusion Assay
Test Platform:
None/not applicable
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The overall sensitivity of the assay is 96.6%, and the specificity is 100%. These results are within the accepted success rates of >95% sensitivity and specificity as described in the validation plan. The positive predictive value of the assay is 100% and the negative predictive value is 93.75%.
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
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.