GTR Test Accession:
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GTR000562019.1
Last updated in GTR: 2018-10-23
View version history
GTR000562019.1, last updated: 2018-10-23
Last annual review date for the lab: 2023-07-06
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At a Glance
Test purpose:
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Drug Response;
Therapeutic management
Conditions (47):
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Chlorpropamide-alcohol flushing; Amitriptyline response; Aripiprazole response; ...
Human genome
Methods (1):
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Molecular Genetics - Mutation scanning of the entire coding region: Microarray
Target population: Help
European ancestry only.
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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Pharmacogenetics
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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420988
Contact Policy:
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Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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Please contact us via e-mail or phone to place an order.
We accept DNA samples, blood and saliva samples shipped via DHL. We do not accept samples on weekdays.
Please note that due to customs regulation we need samples details before the sample is sent.
Order URL
We accept DNA samples, blood and saliva samples shipped via DHL. We do not accept samples on weekdays.
Please note that due to customs regulation we need samples details before the sample is sent.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Genetic counseling
Result interpretation
Specimen Source Identification
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Genetic counseling
Result interpretation
Specimen Source Identification
Test additional service:
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Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 47
| 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
Mutation scanning of the entire coding region
Microarray
Illumina HiScan™SQ system
Clinical Information
Test purpose:
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Drug Response;
Therapeutic management
Target population:
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European ancestry only.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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We follow ACMG guidelines for variant interpretation.
We follow ACMG guidelines for variant interpretation.
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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Yes. We inform ordering physician on reinterpretation events.
Yes. We inform ordering physician on reinterpretation events.
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 Global Screening Array v. 2.0
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Precision >99% (validated using 88 samples)
Assay limitations:
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The assay detects SNPs only. The test does not allow to perform deletion/duplication analysis.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
Method used for proficiency testing: Help
Inter-Laboratory
No
Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Software used to interpret novel variations
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We use clinically validated proprietary internal software.
Laboratory's policy on reporting novel variations Help
We report clinically relevant variants (both novel and reported previously) to patient. We also provide a list of all discovered mutations to clinical doctors.
We use clinically validated proprietary internal software.
Laboratory's policy on reporting novel variations Help
We report clinically relevant variants (both novel and reported previously) to patient. We also provide a list of all discovered mutations to clinical doctors.
Recommended fields not provided:
Test Confirmation,
Citations to support 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:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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.