Next generation sequencing, array-based comparative genomic hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA) platforms. The entire coding regions, as well as all flanking noncoding regions, of 27 cancer genes known to be involved in the development and progression of cancers are analyzed by next-generation sequencing. Flanking regions for the BRCA1 and BRCA2 genes include ±20 bp and ±10 bp for all other genes. Copy number variations are assessed by aCGH or MLPA to detect deletions and duplications.
81201; 81203; 81162; 81292; 81294; 81295; 81297; 81298; 81300; 81317; 81319; 81321; 81323; 81403; 81404(x2); 81405(x3); 81406(x4); 81408; 81479
Lavender-top (EDTA) tube or yellow-top (ACD) tube
A Clinical Questionnaire for VistaSeq should be submitted with specimens.
Causes for Rejection
Frozen specimen; leaking tube; clotted specimen; grossly hemolyzed specimen; incorrect anticoagulant
The following genes are assessed: APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FAM175A, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PRKAR1A, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.
VistaSeq provides an assessment of inherited genetic mutations within a panel of 27 genes known to be associated with hereditary cancer syndromes.
Each gene sequence is interpreted independently of all other gene sequences; however, variants in different genes may sometimes interact to cause or modify a typically monogenic disease phenotype. It cannot be excluded that pathogenic variants were missed due to limitations inherent in the sequence analysis method used here. In addition, the presence of an inherited cancer syndrome due to a different genetic cause cannot be ruled out. Any interpretation given here should be clinically correlated with available information about presentation and the patient's relevant family history.
- Genetic/Familial High-Risk Assessment: Breast and Ovarian. NCCN Guidelines Version 1.2015. Available at: http://www.nccn.org/professionals/ physician_gls/pdf/genetics_screening.pdf. Accessed May 15, 2015.
- SGO Clinical Practice Statement: Next Generation Cancer Gene Panels Versus Gene by Gene Testing March 2014. Available at: https://www.sgo.org/clinicalpractice/guidelines/next-generation-cancer-gene-panels-versus-gene-by-gene-testing. Accessed May 18, 2015.