Predictive; Risk Assessment

Patients with personal and/or familial history of cancer

Illumina TruSight Cancer sequencing panel with the TruSight Rapid Capture kit

Illumina MiSeq

Confirmatory analysis performed for Pathogenic, Likely Pathogenic or Low Coverage variants

Tests performed
Entire test performed in-house

This is a qualitative assay that uses the commercially available TruSight Cancer sequencing panel with the TruSight Rapid Capture kit from Illumina. As this test is a qualitative assay for genetic predisposition of cancer and genetic content is unique to each individual, the validation requirements for the reference range performance … This is a qualitative assay that uses the commercially available TruSight Cancer sequencing panel with the TruSight Rapid Capture kit from Illumina. As this test is a qualitative assay for genetic predisposition of cancer and genetic content is unique to each individual, the validation requirements for the reference range performance characteristic does not apply per CLIA requirements. Analytical sensitivity or the limit of detection: the IntelligeneCG laboratory staff looked at whether sequencing was successful or failed in a 127 samples sequenced that had a starting concentration between 2.5 ng/µl and 5 ng/µl. IntelligeneCG has found that samples with a minimum of 3ng/µl starting concentration can reliably be sequenced and are therefore suitable for inclusion in library preparation. Illumina specifies that 95% of exons are covered at a minimum coverage of 20x with this panel. Analytical specificity: Provided there is a sufficient quantity of DNA as demonstrated by the analytical sensitivity, then the sample can be included in library preparation. Clinics are always advised to have their patients avoid eating, drinking smoking or chewing gum for 30 minutes prior to sample collection by saliva. Accuracy: 14 genomic DNA samples extracted from saliva and previously sequenced at a CLIA certified reference laboratory were used, totaling 42 data points collected. Accuracy was measured by the percentage of concordant specimens, i.e., samples that match the results previously identified. Our results demonstrate 100% concordance and 0% discordance when comparing IntelligeneCG results to the original result provided by the reference laboratory. Precision: 7 genomic DNA samples were used totaling 66 data points collected. All samples were previously sequenced by IntelligeneCG and resulted as positive or negative. Positive samples included a pathogenic or likely pathogenic mutation. Negative samples did not contain a pathogenic or likely pathogenic mutation, but may contain other types of variants (benign, likely benign etc.). All samples were previously sequenced by IntelligeneCG and resulted as positive or negative. Our results demonstrate 100% concordance and 0% discordance when comparing IntelligeneCG validation assay results to the original result. View more

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
CAP

Software used to interpret novel variations Help
Proprietary Internal Software

Laboratory's policy on reporting novel variations Help
Novel variations are reported as routine report to the ordering provider. All the reports are written and curated before publication by a team of scientists to assure that the report conveys the most recent and proper knowledge to assist the ordering provider in the clinical management.