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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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| CPT Code(s): |
83891(1), 83898(6), 83904(9), 83909(1), 83912(1) |
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| Patents: |
5,876,927 |
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| Shipping Considerations |
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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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