Panel Coverage:Focus on genes related to clinical notes + pre-set NICU gene list
Gene Details:>96% of the genome @ 20x; typical average coverage @ 30-45x
Specimen Req:Whole blood; Analysis must be run as a trio with both parents; All samples must be received at the same time
Reporting Policy:Pathogenic and Likely Pathogenic Variants that are diagnostic
Sequencing Methods:NGS
Turnaround Time:7-10 days
SPECIFICATIONS
Must be run as a Trio only.
Must receive parentals concurrently.
Fresh Whole Blood (EDTA “purple top” only)
Diagnostic only (Pathogenic or Likely Pathogenic variants and sufficient for a molecular diagnosis)
Sequencing only (no deletion/duplication analysis)
Exome +200bp evaluation only; deep intronic/regulatory variants are typically not evaluated
If confirmatory testing is required (e.g. Sanger), a preliminary report will be issued. Final report will be made available in an additional 5-10 days.