GTR Test Accession:
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GTR000531723.4
CAP
Last updated in GTR:
2022-05-25
View version history
GTR000531723.4,
last updated:
2022-05-25
GTR000531723.3,
last updated:
2021-05-21
GTR000531723.2,
last updated:
2019-06-19
GTR000531723.1,
registered in GTR:
2016-06-09
Last annual review date for the lab: 2024-06-24
LinkOut
At a Glance
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
Chromosomal SNP microarray analysis is increasingly relevant in establishing a …
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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Neoplasia CMA
Specimen Source:
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- Bone marrow
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
CPT codes:
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Lab contact:
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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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Test kits with return shipping are available, as needed. Email whitneyn@uw.edu or call 206-598-8684 to request kits. Please see the lab's website for complete information about sample requirements, ordering and shipping, and test requisitions.
Order URL
Order URL
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 15
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Microarray
Illumina iScan
Clinical Information
Test purpose:
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Diagnosis;
Prognostic
Target population:
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Chromosomal SNP microarray analysis is increasingly relevant in establishing a diagnosis and prognosis for people with hematologic cancers (e.g. leukemia, ALL, AML, MDS) and solid tumors (e.g. sarcomas, renal cell carcinomas, brain tumors), because it detects abnormalities missed by the more traditional methods of karyotyping and FISH.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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CNVs interpreted using DGV, Atlas of Genetics and Cytogenetics in Hematology and Oncology, Cosmic Catalog of Somatic Mutations in Cancer. Determination of clinical significance and reports are based on ACMG Guidelines.
CNVs interpreted using DGV, Atlas of Genetics and Cytogenetics in Hematology and Oncology, Cosmic Catalog of Somatic Mutations in Cancer. Determination of clinical significance and reports are based on ACMG Guidelines.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. The ordering provider is welcome to contact lab to request an updated interpretation of any CNVs detected previously.
No. The ordering provider is welcome to contact lab to request an updated interpretation of any CNVs detected previously.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
Illumina Infinium CytoSNP-850K BeadChip
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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As per ACMG guidelines, 30 known normal and abnormal samples were used to validate the assay. The microarray detected 100% of the abnormalities.
Assay limitations:
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This microarray will detect aneuploidy as well as copy number gains (duplications or amplifications), copy number losses (deletions), and regions of copy number neutral loss of heterozygosity (cnLOH) for the loci represented on the microarray. Analysis in our laboratory is limited to detecting copy number changes (deletions and duplications) that …
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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
Description of PT method: Help
As part of CAP accreditation, proficiency testing is performed two times per year. The laboratory is provided with approximately 4 unknown specimens for testing each year, and results are returned to CAP for evaluation.
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
As part of CAP accreditation, proficiency testing is performed two times per year. The laboratory is provided with approximately 4 unknown specimens for testing each year, and results are returned to CAP for evaluation.
VUS:
Software used to interpret novel variations
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DGV, Atlas of Genetics and Cytogenetics in Hematology and Oncology, Cosmic Catalog of Somatic Mutations in Cancer
Laboratory's policy on reporting novel variations Help
For neoplasia arrays, variants of uncertain clinical significance and likely constitutional variants of uncertain significance are not reported.
DGV, Atlas of Genetics and Cytogenetics in Hematology and Oncology, Cosmic Catalog of Somatic Mutations in Cancer
Laboratory's policy on reporting novel variations Help
For neoplasia arrays, variants of uncertain clinical significance and likely constitutional variants of uncertain significance are not reported.
Recommended fields not provided:
Test Confirmation,
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.