All coding exons (plus 15 bp upstream and downstream of each coding exon) of the targeted gene(s) are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X is achieved for all coding exons +/- 5 bp, and a minimum coverage of 10X an additional 10 bp from +/- 6 bp through +/- 15 bp. A minimum coverage of 10X is achieved for all clinically significant promoter regions. Regions which do not meet these coverage metrics are filled with targeted Sanger Sequencing. Variants in the targeted regions that are of potential clinical significance, based on the ACMG guidelines for interpretation of sequence variants (PMID: 25741868), will be reported. All reported variants of potential clinical significance not meeting the sequencing quality criteria will be confirmed by a different technology. Copy number variation is assessed by coverage depth within the targeted regions compared to a normalized reference file. Copy number variants of potential clinical significance will be reported following confirmation by a different technology.
Sequencing and deletion/duplication reanalysis of NGS targeted genes.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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.