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GTC-Hematology Profile
Clinical Genetic Test
Help
offered by
Genomic Testing Cooperative, LCA
View lab's test page
LinkOut
GTR Test Accession: Help GTR000591528.2
CAP
CANCER
Last updated in GTR: 2022-07-22
View version history
Last annual review date for the lab: 2023-07-11 LinkOut
At a Glance
Test purpose: Help
Prognostic; Mutation Confirmation; Therapeutic management; ...
Conditions (1): Help
Hematologic neoplasm
Genes (247): Help
ABL1 (9q34.12), ABRAXAS1 (4q21.23), ACVR1B (12q13.13), AKT1 (14q32.33), AKT2 (19q13.2), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with hematologic malignancies or suspected hematologic malignancies
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genomic Testing Cooperative, LCA
View lab's website
View lab's test page
Test short name: Help
Hematology Profile
Manufacturer's name: Help
LDT
Specimen Source: Help
Who can order: Help
  • Nurse Practitioner
  • Licensed Physician
Test Order Code: Help
0004
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Complete Requisition, making sure all sections are completed in their entirety including Client information, Patient Information, Specimen Information and Test Selection. Insure the specimen is labeled with patient name and number. A minimum of two patient identifiers is REQUIRED for each specimen. Diagnosis/Patient History is extremely important in rendering the …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: GTC-Hematology Profile, GTC-Hematology Profile Plus Fusion/Expression, GTC-Solid Tumor Profile, GTC-Solid Tumor Fusion/Expression Profile,GTC-Solid Tumor Profile Plus Expression
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 247
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Prognostic; Mutation Confirmation; Therapeutic management; Diagnosis; Monitoring; Recurrence
Target population: Help
Patients with hematologic malignancies or suspected hematologic malignancies
Sample reports:
Sample Positive Report Help
Sample Positive Report
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
Technical Information
Test Confirmation: Help
bidirectional Sanger Sequencing Fragment length analysis
Test Comments: Help
This is a comprehensive molecular profile which uses next generation sequencing (NGS), fragment length analysis and Sanger Sequencing testing to identify molecular abnormalities in 177 genes implicated in hematologic neoplasms, including leukemia, lymphoma and MDS.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytic validity was established with unique variants consisting of 972 SNVs and 39 indels. The Sensitivity/Variant-level PPA (95% CI) was 0.9969 CI: 0.991 to 0.999 for SNVs and 0.9975 CI: 0.871 to 0.996 for indels. The Specificity/ Variant-level NPA (95% CI) was 1.00 CI: 0.996 to 1.00 for SNVs … View more
Assay limitations: Help
Our sequencing method has a typical sensitivity of 3% for detecting hot-spots specific mutations and 5% for other mutations. Known hot spots in specific genes such as IDH1/2, NRAS, and KRAS are reported at levels of 1% and higher. The FLT3-ITD fragment analysis assay has a sensitivity of 2%-5% for … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
This is a proficiency challenge performed targeted next-generation sequencing of genes or mutation hotspots in hematologic malignancies. Laboratories will be asked to identify somatic single nucleotide variants and small insertions or deletions in some of these genes: ASXL1, ATM, BRAF, CALR, CEBPA, CREBBP, CSF3R, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, … View more
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number:
Status: Pending
Additional Information
Practice guidelines:
Consumer resources:

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.