Hereditary cancer genetic testing

5%–10% of all cancer cases are hereditary cancer syndromes. Hereditary cancer is suspected when several family members on the same side of the family suffer from the same or similar types of cancer, show signs of the disease at a young age, or have several cancers.

Several inherited cancer syndromes are pretty standard, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, familial adenomatous polyposis, Von-Hippel Lindau syndrome, and multiple endocrine neoplasia type 1 and type 2. Most of these syndromes are autosomal dominant and have high penetrance.

Test Methodology

The Hereditary Cancer Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 59 genes associated with hereditary cancer risk. Targeted regions for this panel include the coding exons and 10 bp intronic sequences immediate to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index and sequencing via Illumina SBS technology. Data is aligned using human genome build GRCh37. Variant interpretation is performed according to current ACMG professional guidelines for the interpretation of germline sequence variants using Fabric EnterpriseTM Pipeline 6.6.14.

Genes Evaluated


Test Limitations

This test aims to detect all clinically relevant variants within the coding regions of the genes listed in the method above. Exons 12-15 of PMS2, exons 9-11, 15-27, and 31-35 of NF1, show high homology to pseudogenes and/or contain large repeat regions. Pathogenic and Likely Pathogenic variants in these genes and exons should be confirmed by orthogonal technology. Homopolymer regions, and regions outside of the coding regions cannot be captured by the standard NGS target enrichment protocols. At this time the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions which were not analyzed (e.g. introns, promoter and enhancer regions, long repeat regions, mitochondrial sequence). This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director. This test is not designed to detect complex gene rearrangements or genomic aneuploidy events. eLab only reports findings within the genes that are included within the panel. It is important to understand that there may be variants in these genes undetectable using current technology. Additionally, there may be genes associated with Hereditary Cancer pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with Hereditary Cancer pathology. The interpretation of variants is based on our current understanding of the genes in this panel. These interpretations may change over time as more information about the genes and this individual’s clinical phenotype becomes available. Variants that have been classified as benign, likely benign, or uncertain significance are not included in this report.

Regulatory Disclosures

This test was developed and its performance validated by PCHS. The US Food and Drug Administration (FDA) has determined that clearance or approval of this method is not necessary and thus neither have been obtained. This test has been developed for clinical purposes. All test results are reviewed, interpreted and reported by our scientific and medical experts. To also exclude mistaken identity in your clinic, several guidelines recommend testing a second sample that is independently obtained from the proband. Please note that any further analysis will result in additional costs. The classification of variants can change over time.

Please feel free to contact PCHS ( in the future to determine if there have been any changes in classification of any reported variants.

Any preparation and processing of a sample from patient material provided to PCHS by a physician, clinical institute or a laboratory (by a "Partner") and the requested genetic and/or biochemical testing itself is based on the highest and most current scientific and analytical standards. However, in very few cases genetic or biochemical tests may not show the correct result, e.g. because of the quality of the material provided by a Partner to PCHS or in cases where any test provided by PCHS fails for unforeseeable or unknown reasons that cannot be influenced by PCHS in advance. In such cases, PCHS shall not be responsible and/or liable for the incomplete, potentially misleading or even wrong result of any testing if such issue could not be recognized by PCHS in advance.


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All NGS panels have a turnaround time of 10-14 days for results.

Each panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions with gene specific limitations.Targeted regions include the coding exons and 10 bp intronic sequences immediate to the exon-intron boundary of each coding exonin each of these genes.

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