Forms and Documents
- Adams-Oliver syndrome
- Adult-onset autosomal dominant leukodystrophy (ADLD)
- Aicardi-Goutieres Syndrome
- Alexander Disease
- Canavan Disease
- Cerebrotendinous xanthomatosis (CTX)
- Cockayne syndrome
- Hypomyelination and Congenital Cataract (HCC)
- Krabbe Disease
- Leukoencephalopathy with vanishing white matter
- Metachromatic Leukodystrophy
- Multiple Sulfatase Deficiency
- Perrault Syndrome
- X-linked adrenoleukodystrophy
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management of individuals with leukodystrophy or leukoencephalopathy
- Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
- Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
*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.
- Vanderver A et al. Leukodystrophy Overview. 2014 Feb 6. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK184570/.
- Bonkowsky et al. (2010) Neurology 75 (8):718-25 (PMID: 20660364)
- Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, Hunneman DH, Köhler W, Kurlemann G, Kohlschütter A. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71:475–8 (PMID: 9286459).
- Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.