Genomic Unity® Lightning Genome Analysis – Standard
Use
Genomic Unity® Lightning Genome Analysis – Standard is a rapid diagnostic test for acutely ill ICU patients 18 years of age or older designed to identify genetic variants that correlate with the patient’s phenotype. It is comprehensive, utilizing a whole genome platform to detect all major clinically relevant variant types, and provides a unified clinical report that replaces several other tests, including WES, CMA, MLPA, targeted gene panels, PCR, and southern blot tests for STR expansions.
Special Instructions
Not provided.
Limitations
Mitochondrial large deletions and duplications are not reported with heteroplasmy, false negative rates are not determined for mitochondrial large deletions and short tandem repeat expansions. Certain large deletions and duplications may not be detected, with a clinical sensitivity of 96% for structural variants. SNVs have >99.9% sensitivity, specificity, and a positive predictive value of >99.8%.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Refer to specimen requirements link