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Joubert Syndrome Panel
Clinical Genetic Test
Help
offered by
CeGaT GmbH
View lab's test page
LinkOut
GTR Test Accession: Help GTR000522414.2
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2016-06-23
View version history
Last annual review date for the lab: 2023-06-06 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (22): Help
Joubert syndrome and related disorders; Acrocallosal syndrome; Joubert syndrome 1; ...
Genes (28): Help
AHI1 (6q23.3), ARL13B (3q11.1-11.2), B9D1 (17p11.2), CC2D2A (4p15.32), CEP104 (1p36.32), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Test Order Code: Help
EPI07
Test development: Help
Test developed by laboratory (no manufacturer test name)
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
How to Order, Specimen source, Lab contact for this test, Contact policy, Informed consent required, Pre-test genetic counseling required, Post-test genetic counseling required, Test strategy
Conditions Help
Total conditions: 22
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 28
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For diagnostic sequencing we require a minimal coverage of 30 high-quality, uniquely mapping non-duplicate reads over at least 97% of the target region. At this level, the lowest expected sensitivity is 99.998%. Pathogenic and unclear variants are resequenced using Sanger sequencing, providing a second, independent, confirmation.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, 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: Help
Not provided
Additional Information

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