Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000596290.1
Last updated in GTR: 2021-10-05
Last annual review date for the lab: 2022-04-08 Past due LinkOut
At a Glance
Diagnosis; Drug Response; Predictive; ...
Solid tumor
ABL1 (9q34.12), ABL2 (1q25.2), ABRAXAS1 (4q21.23), ACVR1 (2q24.1), ACVR1B (12q13.13), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Solid tumors with metastatic disease or not; FFPE samples with …
Not provided
Not provided
Ordering Information
Offered by: Help
The Jackson Laboratory for Genomic Medicine
View lab's website
Test short name: Help
Manufacturer's name: Help
Illumina TruSight Oncology 500
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
Lab contact: Help
Lei Li, PhD, MD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Informed consent required: Help
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 517
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 5
Method Category Help
Test method Help
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
Microsatellite instability testing (MSI)
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
RNA analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NovaSeq 6000
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Predictive; Prognostic; Recurrence; Screening; Therapeutic management
Target population: Help
Solid tumors with metastatic disease or not; FFPE samples with greater than or equal to 30% neoplastic content
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
If a variant is uncharacterized or listed as unknown in the knowledgebases with no other functional studies identified, and is not classified in ClinVar for the patient's tumor type, the molecular impact is classified as unknown.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The lab does not re-contact the ordering physicians as routine practice.
Recommended fields not provided:
Technical Information
Test Platform:
Illumina NovaSeq 6000
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The JAX SOMASEQTM assay is >99% sensitive in detecting SNVs, Indels, Fusions/Splicing variants and MSI. JAX SOMASEQTM has a >85% sensititvity for TMB and CNVs. Accuracy for SNVs, Indels, CNVs, and Fusions/Splicing variants and MSI are all greater than 97%. JAX SOMASEQTM has a >89% accuracy for TMB. Specificity for … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

Description of PT method: Help
PT assessments are completed biannually.
Software used to interpret novel variations Help
Pathology Workbench (PWB)

Laboratory's policy on reporting novel variations Help
Novel variants are interpreted in the context of the patient’s disease according the AMP/ASCO/CAP guidelines in which the variant is given a tier classification to signify the level of scientific literature associated with therapeutic, prognostic, and/or diagnostic evidence. All detected variants are reported on a clinical laboratory report that is … View more
Recommended fields not provided:
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.