Genomic Unity® Motor Neuron Disorders Analysis
Use
The Genomic Unity® Motor Neuron Disorders Analysis is designed to identify genetic variants that cause motor neuron disorders. This is a targeted analysis using a whole genome platform to detect major clinically relevant variant types. It focuses on 116 genes associated with motor neuron disorders, providing a comprehensive report that can replace multiple tests including targeted gene panels and MLPA. It is suitable for patients showing clinical symptoms of motor neuron disorders such as amyotrophic lateral sclerosis, hereditary spastic paraplegia, or spinal muscular atrophy.
Special Instructions
Not provided.
Limitations
The test does not fully cover all pathogenic variants within the AR and KDM5C genes, which may limit the detection of certain variants. Additionally, small sequence changes identified in SMN1 or SMN2 might not be assigned to the correct location, which could affect the interpretation of results.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
