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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Bardet-Biedl Syndrome 1 (BBS1) tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Next Generation Sequencing BBS1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)
Test Code: 20410
Sequence Analysis BBS1 Sequence Analysis
Test Code: 20411

This test can only be performed if there is a previously identified familial mutation.
BBS1 Sequence Analysis
Test Code: 20412

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.
BBS1 Prenatal Sequence Analysis (GeneAware)
Test Code: 60182

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


BBS1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing and Differential Diagnosis
Test Details
Test Code: 20410
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#20411).  Please see detailed requirements under this test code.
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: BBS1
Protein Name: Bardet-Biedl Syndrome 1
Test Type: Next Generation Sequencing
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.

Specimen Type: Purified DNA
Requirements: Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 49 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81406 x 1


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