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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 (BBS) DNA Sequencing Test
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| Informed Consent 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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| Patents: |
7,008,782, 6,962,788 |
| CPT Coding |
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The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83898(40), 83904(40), 83909(40), 83912(1) |
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| CPT 2013: |
81404(1), 81406(2) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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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: |
28 days |
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