Recommended test to confirm a diagnosis of hereditary renal cancer syndrome in individuals with a personal or family history of renal cancer. 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.
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US 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)
Genes Tested: BAP1; DICER1; EPCAM**; FH; FLCN*; MET; MLH1; MSH2; MSH6; PMS2; PTEN*; SDHA*; SDHB; SDHC*; SDHD*; SMARCA4; SMARCB1; 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.
81292; 81294; 81295; 81297; 81298; 81300; 81317; 81319; 81321; 81323; 81351
|Component Test Code*||Component Chart Name||LOINC|
|2010215||Renal Hereditary Cancer Panel Specimen||31208-2|
|2010218||Renal Hereditary Cancer Panel Interp||41103-3|
- Birt-Hogg-Dube syndrome
- Cowden syndrome
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome
- hereditary Nonpolyposis Colorectal Cancer (HNPCC)
- hereditary Papillary Renal Carcinoma (HPRC)
- hereditary Paraganglioma Pheochromocytoma syndrome
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- malignant Mesothelioma
- PTEN Hamartoma Tumor syndrome
- rhabdoid Tumor Predisposition syndrome
- tuberous Sclerosis Complex (TSC)
- Von Hippel Lindau (VHL) syndrome
- Wilms tumor