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.
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 8 mL (Min: 4 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
Methodology
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
14-21 days
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