GTR Test Accession:
Help
GTR000592485.3
Last updated in GTR: 2021-11-11
View version history
GTR000592485.3, last updated: 2021-11-11
GTR000592485.2, last updated: 2021-03-31
GTR000592485.1, last updated: 2021-03-23
Last annual review date for the lab: 2024-02-12
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (8):
Help
Acute myeloid leukemia;
Acute leukemia of ambiguous lineage;
B-cell acute lymphoblastic leukemia
more...
Genes (71):
Help
Methods (1):
Help
Molecular Genetics - RNA analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
The Boston Children’s Hospital Heme Malignancy Fusion Panel assay is …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test short name:
Help
Heme
Specimen Source:
Help
- Bone marrow
- Buffy coat
- Fresh tissue
- Frozen tissue
- Paraffin block
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
Test Order Code:
Help
Heme Malignancy Fusion Panel
View other test codes
View other test codes
CPT codes:
Help
Lab contact:
Help
Marian Harris, PhD, MD, ABPath, Medical Director
Leslie Grimmett, MS, CG(ASCP), MB(ASCP), Administrator
leslie.grimmett@childrens.harvard.edu
United States
Leslie Grimmett, MS, CG(ASCP), MB(ASCP), Administrator
leslie.grimmett@childrens.harvard.edu
United States
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.
How to Order:
Help
Please, contact the Laboratory for Molecular Pediatric Pathology for ordering information.
Order URL
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required:
Help
Based on applicable state law
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions
Help
Total conditions: 8
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 71
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument
RNA analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose:
Help
Diagnosis
Target population:
Help
The Boston Children’s Hospital Heme Malignancy Fusion Panel assay is based on the ArcherDX FusionPlex® Heme v2 panel. The assay targets genes with known diagnostic, prognostic and/or therapeutic significance in hematologic malignancies, and is validated to detect fusions of 72 target genes, either between the targeted genes, or between a …
View more
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 Platform:
Archer DX FusionPlex® Heme v2
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
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?
Help
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Description of PT method: Help
Blind sample proficiency testing of samples
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Description of PT method: Help
Blind sample proficiency testing of samples
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.