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GFAP Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GFAP
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differentiation of Alexander disease from Canavan disease
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
218
Turnaround Time:
7-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 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
  • 330: Leukodystrophy, Krabbe's disease, Leukodystrophy: NOS globoid cell metachromatic, sudanophilic, Pelizaeus-Merzbacher disease, Sulfatide lipidosis
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Schuelke, M et al., Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21(3):260-1. 1999
  2. Brenner, M et al., Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease Nature Genetics 27:117-120 (2001)
  3. 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)
  4. Rodriguez D et al., Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation Am J Hum Genet 69:1134-1140 (2001)
  5. Gorospe JR et al., Molecular findings in symptomatic and pre-symptomatic Alexander disease patients Neurology 58: 1494-1500 (2002)

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