Athena Diagnostics - Testing that Makes a Difference
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Bardet-Biedl Syndrome Evaluation #887
Type of Disorder: Obesity
Typical Presentation: At least four of the following symptoms:<br> retinal degeneration, postaxial polydactyly, obesity, hypogenitalism, renal abnormalities, learning disabilities
Indications for Testing: Postaxial polydactyly in infants, diagnosis of BBS based on clinical criteria, family history of BBS
Disease(s) tested for: Bardet-Biedl Syndrome
Test Details
Test Code: 887
Profile includes: BBS1 (BBS) DNA Sequencing Test, BBS2 (BBS) DNA Sequencing Test, BBS10 (Bardet-Biedl Syndrome) DNA Sequencing Test
Informed Consent Required: Yes
Medicare ABN Required: Yes
Technical Information
Utility: Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of BBS1, BBS2, and BBS10 genes
Methodology: Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene
Reference Value: No mutation detected
CPT Code(s): 83891(1), 83898(40), 83904(40), 83909(1), 83912(1)
Patents: 6,962,788; 7,008,782
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 mL (pediatric minimum 2 mL)
Collection Tube: Lavender top (EDTA) or yellow top (ACD-A)
Storage Conditions: For short periods (until shipped) at 4ºC
Shipping Conditions: Overnight at room temperature (specimen arrival must be less than 24 hours after collection); ship Monday through Thursday only.
Test Turnaround: 2 - 8 weeks
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