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PMC DNA Damage Repair Panel

Up to 36 genes Turn around Time: 10 business days
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Test Description

PMC DNA Damage Repair (DDR) Panel evaluates genes associated with the DNA damage repair pathway| particularly those involved in homologous recombination repair (HRR)| also known as homology-directed repair (HDR). This panel is significant for various cancers| including prostate| breast| ovarian| and pancreatic cancer. Due to overlapping clinical features of hereditary susceptibility conditions| utilizing a comprehensive panel test enables a thorough evaluation of potential genes for individuals with similar clinical symptoms. Some genes included in this panel may also be associated with conditions unrelated to the clinical indication for testing.

Patient (Consult a Provider) Provider
  • Associated Conditions
    • Ataxia telangiectasia (A-T)
    • Ataxia-telangiectasia-like disorder
    • BAP1 tumor predisposition syndrome
    • Bloom syndrome
    • Constitutional mismatch repair deficiency (CMMR-D)
    • Fanconi anemia
    • Hereditary breast and ovarian cancer syndrome (HBOC)
  • Methodology

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

  • Assay Information
    • MLH1: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exons 12 includes only cds +/- 10 bp.
    • FANCL: Sequencing analysis for exons 4| 10 includes only cds +/- 10 bp.
    • MSH6: Sequencing analysis for exons 7| 10 includes only cds +/- 10 bp.
    • ATR: Deletion/duplication analysis is not offered for exon 34. Sequencing analysis for exons 34 includes only cds +/- 10 bp.
    • WRN: Deletion/duplication analysis is not offered for exons 10-11. Sequencing analysis for exons 8| 10-11 includes only cds +/- 10 bp.
    • ATM: Sequencing analysis for exons 6| 24| 43 includes only cds +/- 10 bp.
    • 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:

    36 genes selected