Hereditary Ataxia and Cerebellar Anomalies Panel - Childhood Onset

Overview

Test Name

Hereditary Ataxia and Cerebellar Anomalies - Childhood Onset Panel

Test Code

NUE1019

Test Category

Gene Panels

Test Subcategory

Neurology

Disease(s) Targeted

Childhood-onset hereditary ataxia and cerebellar anomalies

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of hereditary ataxia and cerebellar anomalies with onset in childhood.

Test Approach

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

No. of Genes

363

Panel Content

Download Panel Content

Mitochondrial Genome Included In The Analysis

Yes

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 Childhood-onset hereditary ataxia and cerebellar anomalies

Hereditary ataxia and cerebellar anomalies with childhood onset cause coordination and balance issues due to genetic brain changes.