- myMedAct panel: 57 clinically actionable genes
- Specifics: myMedAct Panel
- Sequencing Platform: Illumina
- Turnaround Time: 10 Business Days
Coverage:
- Guaranteed Average >0.5G ± 0.05G (approximately 100x coverage)
- Sequencing Deliverables: Initial Sample QC report, Library QC report, FASTQ files
Data Analysis Deliverables (available for an additional fee)
BAM files, complete VCF plus more in Excel format
Data Delivery: Google Drive (free) or hard drive (additional fees may apply)
Sample Submission: gDNA.
Blood, tissue, FFPE and saliva: $50 per extraction. For additional sample submission information, please click here.
Due to the potential implications of the sequencing result, these results can only be provided to a clinician. If you are an individual seeking this service, you will be required to provide us with the contact information of your physician for release of the report.
A recent study has published recommendations for reporting incidental findings in next-generation sequencing. Reporting incidental findings is likely to benefit those patients undergoing sequencing.
This panel includes diseases that associate with the more common monogenic disorders with typically high penetrance. Both heterozygous or homozygous findings are reported.
Two types of variants are reported:
Known pathogenic (KP): Sequence variation is previously reported and is a recognized cause of the disorder.
Expected pathogenic (EP): Sequence variation is previously reported and is of the type which is expected to cause the disorder (stop loss or gain, a variant in the initiation codon, alterations in invariant splice junction sequences, and frameshifts).
For more information regarding this study, please contact us.