Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Recommended test to confirm a hereditary cause of central nervous system (CNS) cancer in individuals with a personal or family history. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.
To compare this test to other hereditary cancer panels, refer to the ARUP Hereditary Cancer Panel Comparison table.
Mnemonic
Methodology
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
21-42 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report
Laboratory Developed Test (LDT)
Note
Genes tested: ALK; APC*; DICER1; EPCAM**; HRAS; LZTR1; MEN1*; MLH1; MSH2; MSH6; NF1; NF2; PMS2; POT1; PRKAR1A; PTCH1; PTEN*; RB1*; SMARCA4; SMARCB1; SMARCE1*; SUFU; TP53; TSC1; TSC2; VHL*
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
**Deletion/duplication analysis of EPCAM (NM_002354) exon 9 only, sequencing is not available for this gene.
Hotline History
Hotline History
CPT Codes
81201; 81203; 81403; 81404; 81405; 81406; 81407; 81408; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3006058 | CNSCAN Specimen | 66746-9 |
3006059 | CNSCAN Interp | 50398-7 |
Aliases
- Familial adenomatous polyposis (FAP)
- AFAP
- Cowden syndrome
- Gorlin syndrome
- hereditary nonpolyposis colorectal cancer (HNPCC)
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- multiple endocrine neoplasia
- neurofibromatosis
- retinoblastoma
- rhabdoid tumor predisposition syndrome
- tuberous sclerosis complex
- Von Hippel Lindau