Renal Cancer: Deletion/Duplication Panel

Condition Description

Renal cancer is a multifarious and heterogeneous disease with a varied spectrum of malignant subtypes and clinical presentation. A number of gene mutations have been reported in the literature. Renal cell carcinoma (RCC) tumor subtypes include clear cell or conventional (70-80%); papillary type 1 and type 2 (10-15%); chromophobe (3-5%) and collecting duct (1%). The general population's lifetime risk to develop RCC is 1.5%. RCC is the seventh and eighth most common cancer in men and women respectively. Approximately 3-5% of RCC cases are hereditary and occur as a result of an inherited mutation. Unlike sporadic RCC cases, hereditary RCC is often categorized by earlier disease onset and/or multifocal or bilateral tumors.

References:
  • Altekruse, S., et al. (2009). Seer cancer statistics review, 1975-2007, National Cancer Institute. http://seer.cancer.gov/statfacts/html/kidrp.html#risks. Accessed June 13, 2013.
  • Rini, B., et al. (2006). Renal cell carcinoma. Curr Opin in Onc, 18(3):289-296.
  • Rosner, I., et al. (2009). The clinical implications of the genetics of renal cell carcinoma. Urologic Oncology, 27(2):131-136.
  • Coleman, J., and Russo, P. (2009). Hereditary and familial kidney cancer. Curr Opin Urol, 19:478-485.

Genes (22)

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Indications

The test is indicated for:
  • Individuals with a clinical or suspected diagnosis of hereditary renal cancer.

Methodology

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.

Detection

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

Specimen Requirements

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
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 24 hours of collection. Do not refrigerate or freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
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.

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.
  • Renal Cancer: Sequencing Panel.

How to Order

Requisition Forms