Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication
Also known as: CNSCAN NGS
Use
This test is recommended to confirm a hereditary cause of central nervous system (CNS) cancer in individuals with a personal or family history of the condition. Hereditary cancer predisposition is often characterized by early age of onset (typically before age 50), the presence of any number of CNS tumors in a single individual or closely related family member(s), and variable systemic manifestations. Approximately 5% of CNS tumors are associated with a hereditary cause, and pathogenic germline variants in multiple genes have been implicated in hereditary CNS tumors and cancer.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a heritable form of CNS cancer or other cancer. This panel covers coding regions and exon-intron boundaries of targeted genes; deletions/duplications/insertions may not be detected by massively parallel sequencing. Some regions have reduced sensitivity due to technical limitations, and certain exons are not covered due to assay limitations. This test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions. Noncoding transcripts were not analyzed.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 66746-9 - Specimen type
- 50398-7 - Narrative diagnostic report-Imp
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B). New York State Clients: Lavender (EDTA)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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