GTR Test Accession:
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GTR000500621.10
CAP
Last updated in GTR: 2021-01-19
View version history
GTR000500621.10, last updated: 2021-01-19
GTR000500621.9, last updated: 2020-08-17
GTR000500621.8, last updated: 2019-08-13
GTR000500621.7, last updated: 2018-08-20
GTR000500621.6, last updated: 2018-01-23
GTR000500621.5, last updated: 2016-10-17
GTR000500621.4, last updated: 2016-05-04
GTR000500621.3, last updated: 2015-11-13
GTR000500621.2, last updated: 2014-11-17
GTR000500621.1, last updated: 2013-11-20
Last annual review date for the lab: 2023-07-18
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At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (34):
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Joubert syndrome 3; Acrocallosal syndrome; Familial aplasia of the vermis; ...
Genes (41):
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AHI1 (6q23.3), ARL13B (3q11.1-11.2), ARL3 (10q24.32), ARMC9 (2q37.1), B9D1 (17p11.2), ...
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
The target population for this test is patients suspected of …
Clinical validity:
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To date, mutations in the Joubert/Meckel-Gruber Syndrome Panel account for …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- 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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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
Confirmation of research findings
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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No
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: 34
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 41
| 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;
Monitoring;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical validity:
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To date, mutations in the Joubert/Meckel-Gruber Syndrome Panel account for less than 50% of Joubert syndrome cases. Mutations in the Meckel Gruber Syndrome Panel account for approximately 75% of cases
View citations (1)
- Parisi MA et al., “Joubert syndrome and related disorders.” GeneReviews, last updated Sept. 2013.
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Parisi MA et al., “Joubert syndrome and related disorders.” GeneReviews, last updated Sept. 2013.
Target population:
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The target population for this test is patients suspected of a having a diagnosis of Joubert syndrome or Meckel-Gruber syndrome
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.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Research:
Is research allowed on the sample after clinical testing is complete?
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http://dnatesting.uchicago.edu/research-consent-form
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Sample negative report,
Sample positive report
Technical Information
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%
Assay limitations:
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Only the coding and immediate flanking regions of the included genes were analyzed. Changes in the promoter region and other non-coding regions will not be detected by our assay. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less …
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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
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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A custom collection of bioinformatics tools.”
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations
A custom collection of bioinformatics tools.”
Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
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
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.