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