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Test Catalog
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CEP290 DNA Sequencing Test (Joubert Syndrome) |
#791 |
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| Type of Disorder: |
Intellectual disability |
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| Typical Presentation: |
Hypotonia, abnormal ocular movements, neonatal respiratory difficulties, mental retardation, hypoplasia of the cerebellar vermis, malformation of the brainstem. |
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| Indications for Testing: |
Differential Diagnosis for Joubert Syndrome and Related Disorders |
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| Disease(s) tested for: |
Joubert Syndrome and Related Disorders |
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| Test Details |
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| Test Code: |
791 |
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| Profiles that contain this test: |
Joubert Syndrome Evaluation
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| Informed Consent Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects point mutations in the CEP290 gene |
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| Methodology: |
DNA Sequencing |
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| Reference Value: |
No mutation detected |
| 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(56), 83904(56), 83909(56), 83912(1) |
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| CPT 2013: |
81408(1) |
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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 |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, avoid freezing |
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| Test Turnaround: |
28 days |
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