Molecular Genetic Dystonia Gene Panel - NGS
Test Code
MOG26
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
NGS (Next-Generation Sequencing)
NGS (Next-Generation Sequencing) is the advanced molecular diagnostic technology employed for the Dystonia Gene Panel. Dystonia is a heterogeneous group of movement disorders characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. It can be caused by mutations in a large and growing number of genes with diverse functions. NGS allows for the simultaneous and comprehensive sequencing of all coding regions (exons) and often critical intronic/splice site regions of a curated panel of genes known to be associated with various forms of dystonia. This high-throughput approach can detect a wide spectrum of known pathogenic point mutations, small insertions, deletions, and sometimes even larger copy number variations (if specifically designed for it) across all genes on the panel. This provides a highly accurate, comprehensive, and sensitive method for identifying the specific genetic cause of dystonia, which is crucial for definitive diagnosis, classification of dystonia type, guiding prognosis, and genetic counseling, especially given the broad clinical and genetic overlap with other movement disorders.
Sample Required
Whole Blood (WB) in EDTA Vacutainer
(A sample of whole blood collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the blood sample for high-quality DNA extraction.)
Preparation
No specific preparation is typically required for this genetic test. * No Fasting Required: Fasting is not necessary for this blood sample collection. * No Special Timing: Blood can be drawn at any ti... Read more
Schedule Report
35 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.