Invitae Dystonia Comprehensive Panel
Use
The Invitae Dystonia Comprehensive Panel analyzes genes associated with dystonia, which is characterized by sustained muscle contractions leading to abnormal postures and repetitive movements. Genetic heterogeneity of dystonia conditions makes phenotype-based diagnosis challenging. This test helps confirm clinical diagnosis, predict disease progression, and inform family planning and clinical trials. The panel includes genes known to cause dystonia and potentially others with indirect or future clinical significance.
Special Instructions
The test allows for gene removal during ordering. It is performed at a CAP-accredited and CLIA-certified laboratory. The analysis covers clinically important regions including exons and intronic sequences; some non-coding variants are included. Limitations and any non-analyzed regions are specified in the report. DNA from alternative sources like saliva or buccal swabs can be used.
Limitations
The analysis may not detect certain structural rearrangements or sequence variants in complex regions. Resolution limits may affect detection of single-exon copy number changes or larger insertions/deletions. Non-coding regions like promoters are generally not covered unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)