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