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Test Catalog
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Alexander Disease (GFAP) DNA Sequencing Test |
#549 |
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Infants: Seizures, megalencephaly, developmental delay, spasticity
Juveniles and Adults: Signs of brain stem abnormalities and spasticity with or without megalencephaly or seizures |
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| Disease(s) tested for: |
Alexander Disease |
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| Test Details |
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| Test Code: |
549 |
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutation in GFAP gene |
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| Methodology: |
DNA Sequencing |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(10), 83904(10), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 ml (Pediatric minimum: 2 ml) |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
21 days |
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