VistaSeq Hereditary Cancer Panel

CPT:

81162; 81201; 81203; 81292; 81294; 81295; 81297; 81298; 81300; 81307; 81317; 81319; 81321; 81323; 81403; 81404(x2); 81405(x3); 81406(x3); 81408; 81479


Test Includes

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.


Special Instructions

A Clinical Questionnaire for VistaSeq should be submitted with specimens. 


Expected Turnaround Time

24 - 28 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.



Specimen Requirements


Specimen

Whole blood, saliva collected in an Oragene Dx collection kit


Volume

10 mL whole blood, 2 mL saliva


Minimum Volume

7 mL whole blood, 0.5 mL saliva


Container

Lavender-top (EDTA) tube or yellow-top (ACD) tube


Collection

Blood is collected by routine phlebotomy. Saliva is collected by spitting into the provided container until it reaches the fill line.


Storage Instructions

Store at room temperature.


Causes for Rejection

Frozen specimen; leaking tube; clotted specimen; grossly hemolyzed specimen; incorrect anticoagulant


Test Details


Use

VistaSeq provides an assessment of inherited genetic mutations within a panel of 27 genes known to be associated with hereditary cancer syndromes.


Limitations

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.


Methodology

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.


References

  1. 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.
  2. 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.