Leukodystrophy Xpanded Panel
New York
Approved
Genes
Conditions
- GM1-Gangliosidosis
- Aicardi-Goutieres Syndrome
- Alexander Disease
- Krabbe Disease
- Metachromatic Leukodystrophy
- Multiple Sulfatase Deficiency
- Perrault Syndrome
- Cerebrotendinous xanthomatosis (CTX)
- Hypomyelination and Congenital Cataract (HCC)
- Adult-onset autosomal dominant leukodystrophy (ADLD)
- X-linked adrenoleukodystrophy
- Adams-Oliver syndrome
- Leukoencephalopathy with vanishing white matter
- Cockayne syndrome
- Ovarioleukodystrophy
- CARASIL
- CADASIL
- Canavan Disease
Clinical Utility
- 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
Lab Method
- Next-Gen Sequencing
Test Code
J853
CPT Codes*
81404x5, 81405x6, 81406x5, 81401x1
ABN Required
No
Turnaround Time**
6 weeks
Preferred Specimen
Alternative Specimen
*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.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Test Documents
Billing
Targeted Variant Testing