The entire coding sequences (exons plus 20 bp upstream and 20 bp downstream of each coding exon) of the targeted genes are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X for all coding exons is achieved. Variants in the targeted regions that are of potential clinical significance, based on the ACMGG guidelines for interpretation of sequence variants (Richards et al. Genet Med 17(5):405-524, 2015), will be reported. Copy number variation is assessed by coverage depth within the targeted regions compared to a normalized set of controls. Copy number variants within the targeted regions that are of potential clinical significance will also be reported. All reported variants of potential clinical significance will be confirmed by a different technology or platform.
Sequencing and deletion/duplication reanalysis of NGS targeted genes.
Interpretive report provided.
This assay will not detect variants outside the targeted genes.
Reanalysis of NGS DATA cannot be ordered unless a previous germline NGS panel was ordered in MMGL: BOPND, BOPN, CCND. Contact the laboratory for additional information.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician.