Zenith™ Genome
Use
Zenith™ genomics provides comprehensive analysis for patients suspected of rare diseases. By moving genome sequencing to the front line, it helps improve long-term quality of life and reduces unnecessary medical interventions. This test evaluates both protein coding and non-coding regions, includes CNV analysis, mitochondrial genome analysis, and select TRE analysis, offering detailed insights into genetic causes of complex health issues like developmental delays and seizures.
Special Instructions
The Zenith™ platform employs advanced bioinformatics and long-read sequencing. It allows easy test escalation and includes complementary reanalysis every 12 months. Includes an option for ACMG-recommended secondary findings. For optimal interpretation, it's recommended to include samples from both parents.
Limitations
While providing comprehensive genetic insights, the test's limitations include potential non-detection of all genetic variations due to sequencing depth and bioinformatics constraints. Certain rare variants might not be captured, necessitating periodic reanalysis as new data becomes available.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
6-8 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA (purple-top) tubes
Collection Instructions
Collect two EDTA (purple-top) tubes of blood; ship on the same day of acquisition.