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Hereditary Cancer Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Recommended test to confirm a hereditary cause of cancer in individuals with a personal or family history consistent with features of more than one cancer syndrome. 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 Hereditary Cancer Panel Comparison table.
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
Methodology
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)
Performed
Varies
Reported
14-21 days
Reference Interval
By report
Interpretive Data
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Genes Tested: ALK; APC*; ATM; AXIN2; BAP1; BARD1; BMPR1A*; BRCA1*; BRCA2; BRIP1; CDC73; CDH1*; CDK4; CDKN1B; CDKN2A*; CHEK2*; CTNNA1*; DICER1; EGFR; EPCAM**; FH; FLCN*; HOXB13; HRAS; KIT; LZTR1; MAX; MC1R; MEN1*; MET; MITF*; MLH1; MLH3*; MSH2; MSH3; MSH6; MUTYH; NBN; NF1; NF2; NTHL1; PALB2; PDGFRA*; PMS2; POLD1; POLE; POT1; PRKAR1A; PTCH1; PTEN*; RAD51C; RAD51D; RB1*; RECQL*; RET; SDHA*; SDHAF2; SDHB; SDHC*; SDHD*; SMAD4; SMARCA4; SMARCB1; SMARCE1*; STK11; SUFU; TERT; TMEM127; TP53; TSC1; TSC2; VHL*; WT1
*- 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
CPT Codes
81162; 81201; 81292; 81295; 81298; 81307; 81317; 81321; 81351; 81403; 81404; 81405; 81406; 81407; 81408; 81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2012033 | Cancer Panel, Hereditary, Spcm | 31208-2 |
| 2012034 | Cancer Panel, Hereditary, Interp | 35474-6 |
Aliases
- Tuberous Sclerosis Complex (TSC)
- Hereditary Diffuse Gastric Cancer (HDGC)
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome
- Birt-Hogg-Dube (BHD) syndrome
- Coffin-Siris syndrome
- Hereditary Paraganglioma Pheochromocytoma
- Von Hippel Lindau (VHL) syndrome
- Hereditary Papillary Renal Carcinoma (HPRC) syndrome
- HBOC syndrome
- Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
- Wilms Tumor
- Peutz-Jegher syndrome (PJS)
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- Malignant Mesothelioma
- MUTYH-Associated Polyposis (MAP)
- PTEN Hamartoma Tumor syndrome
- Juvenile Polyposis syndrome (JPS)
- Rhabdoid Tumor Predisposition syndrome
- Cowden syndrome
- Familial Adenomatous Polyposis (FAP)
