GTR Test Accession:
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GTR000600501.2
Last updated in GTR: 2022-10-26
View version history
GTR000600501.2, last updated: 2022-10-26
GTR000600501.1, last updated: 2022-10-25
Last annual review date for the lab: 2023-07-18
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At a Glance
Test purpose:
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Diagnosis;
Predictive;
Prognostic; ...
Conditions (17):
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Polycystic kidney disease, adult type; Alagille syndrome due to a JAG1 point mutation; Alagille syndrome due to a NOTCH2 point mutation; ...
Genes (64):
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ACTN4 (19q13.2), AHI1 (6q23.3), ANKS6 (9q22.33), ANLN (7p14.2), ARL13B (3q11.1-11.2), ...
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Peripheral (whole) blood
- Product of conception (POC)
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
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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•All samples should be shipped via overnight delivery at room temperature.
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Repeat Expansion Testing
Uniparental Disomy (UPD) Testing
Confirmation of research findings
Custom Deletion/Duplication Testing
Repeat Expansion Testing
Uniparental Disomy (UPD) Testing
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
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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Decline to answer
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,
Test strategy
Conditions
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Total conditions: 17
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 64
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
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;
Predictive;
Prognostic;
Therapeutic management
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
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Likely pathogenic and pathogenic variants are confirmed by Sanger sequencing or MLPA
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Laboratory's policy on reporting novel variations
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All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
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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Not provided
Additional Information
Clinical resources:
Molecular 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.