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Test Catalog
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CDKL5 Duplication/Deletion Test (Epilepsy) |
#067 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Individuals less than 3 months of age with intractable seizures, especially tonic spasms, and atypical Rett syndrome |
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| Disease(s) tested for: |
Atypical Rett Syndrome, Early infantile epileptic encephalopathy |
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| Test Details |
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| Test Code: |
067 |
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| Profiles that contain this test: |
CDKL5 Evaluation (Epilepsy), Early Infantile Epileptic Encephalopathy (EIEE) Evaluation
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| Informed Consent Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects duplications/deletions in the CDKL5 gene |
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| Methodology: |
MLPA |
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| Reference Value: |
No duplication/deletion 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), 83900(1), 83901(26), 83909(1), 83912(1), 83914(28) |
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| CPT 2013: |
81405(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 |
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| Shipping Conditions: |
Ship room temperature, avoid freezing |
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| Test Turnaround: |
21-28 days |
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