- Leukoencephalopathies represent a large and expanding group of neurologic disorders that involve the white matter of the brain. White matter enables information transfer in the brain and provides macroconnectivity (1). The most prominent clinical syndrome appears to be cognitive impairment. Clinical and neuroimaging evidence indicate that leukoencephalopathy may be benign until a certain burden of involvement is surpassed. Many individuals show no signs or symptoms of the disorder at birth, but during childhood most affected individuals will begin to develop motor symptoms such as abnormal muscle stiffness and difficulty with coordinating movements. Affected individuals are also more vulnerable to stresses such as infection, mild head trauma or other injury, or even extreme fright (2). Diagnosis requires a variety of blood, urine, and cerebrospinal fluid tests. Treatment is vital and varies depending on the specific pathologic process involved (1). Although the prevalence of the leukoencephalopathy is unknown, it is believed to be one of the most common inherited diseases that affect the white matter. Several mutations that affect protein production have been identified as causes for leukoencephalopathy and genetic testing is highly recommended.
- Genes (56): AARS2, ABAT, ACOX1, ALDH3A2, ARSA, ASPA, ATP1A2, CACNA1A, CLCN2, CSF1R, CUL4B, DARS, DARS2, DNM1L, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EZH2, FAM126A, GFAP, GJC2, GPC3, HEPACAM, HSD17B4, HSPD1, HTRA1, LMNB1, MED12, MLC1, NFIX, NOTCH3, NSD1, OFD1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PLP1, PSAP, PTEN, RAB39B, RNASET2, SCP2, SLC25A12, and SLC2A1
Test Code: 5051
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Leukoencephalopathy Panel
Requisition: Cancer Test Requisition Form
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81321×1, 81401×1, 81405×6, 81406×6, 81407×1, 81479×41
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Related Tests: None