OvaNext

Every patient diagnosed with epithelial ovarian cancer meets criteria for hereditary cancer genetic testing.  OvaNext, a 25 gene panel, offers the most comprehensive testing for gynecologic cancers to increase the chance of identifying and managing hereditary cancer risks.

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Test Code 8830
Turnaround Time (TAT) 14-21 days
Number of Genes 25
Specimen Requirements Click here

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Why Is This Important?

  1.  Option to modify frequency and initial age of surveillance for various cancers
  2.  Consideration of prophylactic oophorectomy or other risk-reducing measures, as appropriate
  3.  Option to tailor treatments (e.g. PARP inhibitors for BRCA1/BRCA2)
  4.  Identify at-risk family members

When To Consider Testing

  • Ovarian cancer at any age
  • Uterine cancer diagnosed <50 years of age or with abnormal MSI/IHC 
  • Multiple primary cancers in one person (e.g. uterine and breast or thyroid cancer)
  • Multiple close family members with ovarian or uterine and other cancers (on the same side of the family)
  • Cancer histories that are suspicious for both hereditary breast ovarian cancer and Lynch syndrome

Mutation Distribution and Detection Rates*

* Excludes MUTYH carriers, and CHEK2 p.l157T

Test Description

OvaNext analyzes 25 genes (listed above). 24 genes (excluding EPCAM) are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. In addition, sequencing of the promoter region is performed for the following genes: PTEN (c.-1300 to c.-745), MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65). The inversion of coding exons 1-7 of the MSH2 gene and the BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) are detected by NGS and confirmed by PCR and agarose gel electrophoresis. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1  Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all 25 genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. If a deletion is detected in exons 13, 14, or 15 of PMS2, double stranded sequencing of the appropriate exon(s) of the pseudogene, PMS2CL, will be performed to determine if the deletion is located in the PMS2 gene or pseudogene.

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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