Forms and Documents
- Confirmation of a clinical diagnosis
- Differentiation of Alexander disease from Canavan disease
- Prenatal diagnosis in at-risk pregnancies
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 330 Cerebral degenerations usually manifest in childhood Use additional code to identify associated mental retardation
- 742.4 Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
- 330.8 Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
**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.
- Schuelke, M et al., Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21(3):260-1. 1999
- Brenner, M et al., Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease Nature Genetics 27:117-120 (2001)
- Meins M et al., Infantile Alexander Disease: A GFAP Mutation in Monozygotic Twins and Novel Mutations in Two Other Patients Neuropediatrics 33:194-198 (2002)
- Rodriguez D et al., Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation Am J Hum Genet 69:1134-1140 (2001)
- Gorospe JR et al., Molecular findings in symptomatic and pre-symptomatic Alexander disease patients Neurology 58: 1494-1500 (2002)