PMC Hereditary Prostate Cancer Panel

Up to 16 genes Turn around Time: 10 business days
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Test Description

PMC Hereditary Prostate Cancer Panel examines genes linked to an increased risk of developing prostate cancer in adulthood. Due to the genetic diversity associated with these conditions| relying solely on physical characteristics can be challenging in pinpointing the exact cause. By conducting a comprehensive panel test| healthcare providers can efficiently assess multiple potential genes considering the overlapping nature of prostate cancer susceptibility conditions. Some genes included in this panel may also be associated with conditions unrelated to the clinical indication for testing.

  • Associated Conditions
    • Aplastic Anemia
    • Ataxia telangiectasia (A-T)
    • Breast Cancer
    • Breast-Ovarian Cancer, Familial 1
    • Constitutional mismatch repair deficiency (CMMR-D)
    • Cutaneous Telangiectasia And Cancer Syndrome, Familial
    • Fanconi Anemia, Complementation Group D1
  • Methodology

    Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)

  • Assay Information
    • ATR: Deletion/duplication analysis is not offered for exon 34. Sequencing analysis for exons 34 includes only cds +/- 10 bp.
    • MLH1: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exons 12 includes only cds +/- 10 bp.
    • PMS2: Sequencing analysis for exons 7 includes only cds +/- 10 bp.
    • ATM: Sequencing analysis for exons 6| 24| 43 includes only cds +/- 10 bp.
    • MSH6: Sequencing analysis for exons 7| 10 includes only cds +/- 10 bp.
    • EPCAM: Sequencing analysis is not offered for this gene.
    • MSH2: Analysis includes the exon 1-7 inversion (Boland mutation). Sequencing analysis for exons 2| 5 includes only cds +/- 10 bp. Deletions restricted to only the EPCAM gene will not be detected unless EPCAM analysis is requested.
  • Limitations

    All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.

  • References
    • 1. Richards S et al. Genetics in medicine. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 2015 May;17(5):405-24 (PMID: 25741868)
    • 2. GnomAD (gnomAD)
    • 3. CSPEC (ClinGen variant classification rules registry) Criteria Specification Registry
    • 4. Normal copy number variation in healthy individuals database of genomic variants: http://dgv.tcag.ca/dgv/app/home
  • Tagged Genes

    Primary panel:

    16 genes selected