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.
- Individuals with a clinical or suspected diagnosis of an inherited cancer syndrome based on personal or family history of cancer.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship in appropriate tissue transport medium, overnight, at room temperature.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Hereditary Cancer Syndrome: Sequencing Panel