Genomic Unity® Movement Disorders Analysis
Use
Genomic Unity® Movement Disorders Analysis is designed to identify genetic variants that cause movement disorders. These disorders can include symptoms such as ataxia, imbalance, gait disturbances, spasms, and tremors. The test provides a unified clinical report that surpasses a combination of separate tests like targeted gene panel, single gene analysis, multiplex ligation-dependent probe amplification (MLPA), PCR, and southern blot tests for short tandem repeat expansions. It's specifically tailored to detect all major clinically relevant variant types from a singular sample, leveraging more than 230 genes associated with movement disorders.
Special Instructions
Not provided.
Limitations
Certain genes such as ATXN7, CACNA1A, CAMTA1, KCNC3, KMT2B, STUB1, and TMEM240 are not fully covered by this test, which may limit the detection of all pathogenic variants in these regions. Additionally, parts of the NOTCH2NLC gene are non-unique, complicating variant location assignment and interpretation.
Methodology
NGS
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
Collection Instructions
Refer to blood specimen requirements link for detailed instructions.
