Hereditary Cancer Syndrome: Deletion/Duplication Panel

Condition Description

Approximately 5-10% of all cancers are inherited, meaning that pathogenic variants in a single cancer susceptibility gene can predispose an individual to develop cancer and these pathogenic variants can be passed down in families. The risk for developing cancer can vary dramatically from syndrome to syndrome, from about a 55% risk of developing breast cancer in Peutz-Jeghers syndrome to as high as a 100% risk for colon cancer for familial adenomatous polyposis syndrome. Accurate and timely diagnoses are necessary to provide proper medical surveillance and treatment to affected and at-risk individuals. 

Many of the inherited cancers syndromes and cancer susceptibility genes are phenotypically heterogeneous, making molecular testing necessary to confirm a clinical diagnosis. The traditional tiered, single gene approach to genetic testing for inherited cancer syndromes can be costly and time consuming. The Hereditary Cancer Syndrome Panel is designed to detect germline pathogenic variants in individuals with a suspected inherited cancer syndrome. This panel includes sequencing analysis for syndromes such as, Lynch syndrome, Cowden syndrome, Multiple Endocrine Neoplasia syndrome, Birt-Hogg Dube syndrome, and Li-Fraumeni syndrome. Additional syndromes are also tested for by this panel.

  • Jasperson KW. (2012) Cancer Journal; 18(4): 328-333.

Genes (55)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


The test is indicated for:
  • Individuals with a clinical or suspected diagnosis of an inherited cancer syndrome based on personal or family history of cancer.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

Special Instructions

This test is for germline mutation analysis. DNA isolated from FFPE tumor samples is not suitable for this test.
  • Hereditary Cancer Syndrome: Sequencing Panel

How to Order

Requisition Forms