Brain, CNS, and PNS Cancer: Deletion/Duplication Panel

Condition Description

Approximately 5% of primary brain cancers have known hereditary factors. Specifically, Li-Fraumeni syndrome, p53 defects, neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease, Turcot\'s syndrome, and familial polyposis increase the risk of brain tumors.

In 2013, an estimated 23,130 people in the United States will be diagnosed with primary malignant brain and other central nervous system (CNS) neoplasms.

References:
  • Honnorat J and Antoine JC. Paraneoplastic neurological syndromes. Orphanet J Rare Dis. 2007; 2: 22.
     
  • Siegel R, Naishadham D, Jemal A. Cancer statistics, 2013. CA Cancer J Clin 2013;63:1130.

Genes (15)

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

Indications

The test is indicated for:
  • Individuals with a clinical or suspected diagnosis of brain, CNS, or PNS 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

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 (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
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.
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 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.
  • Brain, CNS, and PNS Cancer: Sequencing Panel.

How to Order

Requisition Forms