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Bardet-Biedl Syndrome
Clinical Genetic Test
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offered by
Amplexa Genetics
View lab's test page
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GTR Test Accession: Help GTR000562576.2
INHERITED DISEASESYNDROMIC DISEASE
Last updated in GTR: 2023-01-16
View version history
Last annual review date for the lab: 2023-01-17 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Bardet-Biedl syndrome
Genes (25): Help
ALMS1 (2p13.1); ARL6 (3q11.2); BBIP1 (10q25.2); BBS1 (11q13.2); BBS10 (12q21.2) more...
Methods (2): Help
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Any
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Amplexa Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Bardet-Biedl Syndrome
How to Order: Help
By requisition
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Pre-test and post-test genetic counseling is available for this test
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 25
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
SeqStudio Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Any
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
According to ACMG quide lines

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Clinical utility, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
>99% sensitivity for detecting single base variants, small deletions and duplications.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
HGMD, ClinVar, SIFT, Polyphen, HOPE
Recommended fields not provided:
Test Confirmation, 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: Help
Category: Not Applicable
Additional Information

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.