CLCN1 DNA Sequencing Test
Use
The CLCN1 gene encodes for a protein involved in the conduction of chloride ions across the skeletal muscle membrane, which is essential for normal muscle function. Mutations in this gene are associated with myotonia congenita, a neuromuscular disorder characterized by muscle stiffness and delayed relaxation after voluntary contraction. Accurate sequencing of the CLCN1 gene helps diagnose this condition and aids in distinguishing myotonia congenita from other neuromuscular disorders.
Special Instructions
This test requires collection date and informed consent. Specimens should be mixed by inverting several times before sending ambient.
Limitations
This test is specifically designed to detect mutations in the CLCN1 gene. It may not detect all variants or mutations outside the targeted regions of the CLCN1 gene. The presence of mutations in other genes or environmental factors contributing to similar clinical symptoms will not be detected by this assay. Results should be interpreted in the context of clinical findings, family history, and other laboratory data.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8 mL
Minimum Volume
6 mL
Container
Lavender-top (EDTA)
Collection Instructions
Invert several times to mix. Send ambient.
Patient Preparation
Collection date and informed consent are required.
Causes for Rejection
Frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |