Neurology

Skeletal Muscle Channelopathy Panel

Overview

Test Name

Test Code

NUE1031

Test Category

Gene Panels

Test Subcategory

Neurology

Disease(s) Targeted

Skeletal muscle channelopathy

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of skeletal muscle channelopathy.

Test Approach

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

No. of Genes

Panel Content

ATP2A1, CACNA1S, CLCN1, KCNA1, KCNJ2, MT-ATP6, MT-ATP8, PYGM, RYR1, SCN4A

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 Skeletal muscle channelopathy

Skeletal muscle channelopathy is a rare genetic disorder causing muscle weakness or stiffness due to faulty ion channels.

Skeletal Muscle Channelopathy Panel

Overview

Test Name

Test Code

Test Category

Test Subcategory

Disease(s) Targeted

Who Is The Test For?

Test Approach

No. of Genes

Panel Content

Mitochondrial Genome Included In The Analysis

Deliverables

Turnaround Time

Specimen Requirements

About Skeletal muscle channelopathy

Gene Panel Workflow

Consent, Test Request, and Sample Collection

Data Generation

Bioinformatics and Analysis

Reporting