Neurology

Adult-onset Leukodystrophy Panel

Overview

Test Name

Adult Onset Leukodystrophy Panel

Test Code

NUE1005

Test Category

Gene Panels

Test Subcategory

Neurology

Disease(s) Targeted

Adult onset leukodystrophy

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of leukodystrophy with onset in adulthood.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis.

No. of Genes

Panel Content

AARS1, AARS2, ABCD1, ALDH3A2, APP, ARSA, AUH, CLCN2, COL4A1, COL4A2, CSF1R, CTSA, CYP27A1, DARS1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, GALC, GBE1, GCDH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GSN, HEPACAM, HEXA, HTRA1, ITM2B, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MCOLN1, MTHFR, NOTCH3, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PRNP, PSAP, PSEN1, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNF216, SAMHD1, SNORD118, SPG11, SPG21, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, ZFYVE26

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Adult onset leukodystrophy

Adult-onset leukodystrophy is a rare neurological disorder that affects the white matter of the brain, leading to progressive motor, cognitive, and behavioural symptoms later in life.