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Test Catalog
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Congenital Hypomyelination Evaluation |
#245 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Floppy infants with severe neuropathy and absence of peripheral nerve myelin |
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| Disease(s) tested for: |
Congenital hypomyelination neuropathy |
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| Test Details |
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| Test Code: |
245 |
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| Profile includes: |
EGR2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
N/A |
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| Technical Information |
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| Utility: |
Detects sequence variations in the MPZ (P0) and EGR2 genes |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
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| Reference Value: |
No sequence variation detected |
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| Patents: |
5,876,927, 5,723,593 |
| 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(11), 83904(11), 83909(11), 83912(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: |
20ml |
| Collection Tube: |
Lavender (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Room temperature, avoid freezing |
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| Shipping Conditions: |
Overnight, room temperature |
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| Test Turnaround: |
14-21 days |
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