Bardet Biedl Syndrome Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000522363.3
INHERITED DISEASESYNDROMIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2016-06-23
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 10 more...
ALMS1 (2p13.1); ARL6 (3q11.2); BBIP1 (10q25.2); BBS1 (11q13.2); BBS10 (12q21.2) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Test Order Code: Help
CIL03
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 17
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 24
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:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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