GTR Test Accession:
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GTR000600647.1
CAP
Last updated in GTR: 2022-10-27
View version history
GTR000600647.1, last updated: 2022-10-27
Last annual review date for the lab: 2022-10-27
Past due
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Prognostic
Conditions (4):
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Acute myeloid leukemia; Juvenile myelomonocytic leukemia; Myelodysplastic syndrome; ...
Genes (52):
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ABL1 (9q34.12), ASXL1 (20q11.21), BCOR (Xp11.4), BCORL1 (Xq26.1), BRAF (7q34), ...
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), Primary Myelofibrosis (PMF), …
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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UCSF MDx
Specimen Source:
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- Bone marrow
- Buccal swab
- Isolated DNA
- FFPE slides
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
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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Blood: 3 mL
Bone marrow aspirate: 3 mL
FFPE: 10 micron sections x5 on uncharged, unstained, glass slides
Germline Sample: Collect 4-6 cytobrushes/cotton swabs on each side of the mouth, place swabs in transport tubes, 2 swabs per tube.
Order URL
Bone marrow aspirate: 3 mL
FFPE: 10 micron sections x5 on uncharged, unstained, glass slides
Germline Sample: Collect 4-6 cytobrushes/cotton swabs on each side of the mouth, place swabs in transport tubes, 2 swabs per tube.
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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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
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 52
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Prognostic
Target population:
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Acute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), Primary Myelofibrosis (PMF), Myeloid malignancies
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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Exons Capture for DNA Library
Test Platform:
Illumina MiSeq
Availability:
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Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity:
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Variant Allele Frequency (VAF) greater or equal to 1%
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
College of American Pathologists, CAP
Description of PT method: Help
Next Generation Sequencing
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Description of PT method: Help
Next Generation Sequencing
Recommended fields not provided:
Test Confirmation,
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
Clinical resources:
Molecular resources:
Practice guidelines:
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