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Test Catalog
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FIG4 DNA Sequencing Test |
#225 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Early onset, coordination disorder, severe disability. MNCV 2?7 m/s, CMAPs reduced. |
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| Disease(s) tested for: |
Charcot-Marie-Tooth Disease Type 4J |
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| Test Details |
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| Test Code: |
225 |
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| Profiles that contain this test: |
Complete CMT Evaluation, Partial CMT Evaluation - Recessive Only
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Technical Information |
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| Utility: |
Detects mutations in the FIG4 gene |
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| Methodology: |
DNA Sequencing, Polymerase Chain Reaction (PCR) |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83898(23), 83904(23), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Ship same day. Must arrive at Athena on a weekday. |
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| Test Turnaround: |
2-3 weeks |
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