GTR Test Accession:
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GTR000561700.2
Last updated in GTR: 2020-08-10
View version history
GTR000561700.2, last updated: 2020-08-10
GTR000561700.1, last updated: 2019-09-06
Last annual review date for the lab: 2023-12-12
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At a Glance
Test purpose:
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Drug Response;
Predictive;
Risk Assessment
Conditions (7):
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Familial cancer of breast; Breast and/or ovarian cancer; Joubert syndrome 14; ...
Genes (1):
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BRCA2 (13q13.1)
Methods (1):
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Biochemical Genetics - Protein expression: Microarray
Target population: Help
Individuals planing a personal health management and disease prevention and …
Clinical validity:
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no clinical validity
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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DNA-PANEL
Manufacturer's name:
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ILLUMINA ARRAY
Specimen Source:
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- Buccal swab
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Public Health Mandate
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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online ordering
Order URL
Order URL
Test service:
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Custom Sequence Analysis
Test development:
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Manufactured (research use only; not FDA-reviewed)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 7
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
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
Protein expression
Microarray
Illumina HiScan™SQ system
Clinical Information
Test purpose:
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Drug Response;
Predictive;
Risk Assessment
Clinical validity:
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no clinical validity
Target population:
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Individuals planing a personal health management and disease prevention and early diagnostic. This test is only for Hospitals and other health care providers.
Sample reports:
Sample Negative Report
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Revised report requested by NCBI
Sample Positive Report Help
Revised report requested by NCBI
Sample VUS Report Help
Revised report requested by NCBI
Revised report requested by NCBI
Sample Positive Report Help
Revised report requested by NCBI
Sample VUS Report Help
Revised report requested by NCBI
Recommended fields not provided:
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?
Technical Information
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Test Confirmation:
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Only Array
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab
Test performance comments
Collaboration in Erasmus and Madrid CSIC
Interpretation performed in-house
Report generated in-house
Specimen preparation performed at an outside lab
Wet lab work performed at an outside lab
Test performance comments
Collaboration in Erasmus and Madrid CSIC
Analytical Validity:
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Staining Control, Extension Control, Hybrization Control, Non Polymorphic Control, Restoration Control.
99,978% snp accuracy
+1000 samples analyzed
>98% call rate
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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Illumina SW + own pipeline
Illumina SW + own pipeline
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Suggested reading:
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.