Recommended test to confirm a diagnosis of a hereditary cancer syndrome in individuals with personal or family history consistent with features of more than one cancer syndrome. When a relative has a previously identified pathogenic sequence variant, see Familial Mutation, Targeted Sequencing (2001961).
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
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: ALK, APC, ATM, ATR, AXIN2**, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2*, DICER1, EPCAM****, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3**, MSH6, MUTYH, NBN, NF1**, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL***, RET, SDHAF2, SDHB, SDHC*, SDHD*, SMAD4, SMARCA4**, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1**
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
**** Deletion/duplication only; sequencing is not available for this gene.
81432; 81433; 81435; 81436; 81437; 81438
|Component Test Code*||Component Chart Name||LOINC|
|2012033||Cancer Panel, Hereditary, Spcm||31208-2|
|2012034||Cancer Panel, Hereditary, Interp||35474-6|
- Birt-Hogg-Dube (BHD) syndrome
- Cowden syndrome
- Familial Adenomatous Polyposis (FAP)
- HBOC syndrome
- Hereditary Diffuse Gastric Cancer (HDGC)
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome
- Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
- Hereditary Papillary Renal Carcinoma (HPRC) syndrome
- Hereditary Paraganglioma Pheochromocytoma
- Juvenile Polyposis syndrome (JPS)
- Li-Fraumeni syndrome (LFS)
- Lynch syndrome
- Malignant Mesothelioma
- MUTYH-Associated Polyposis (MAP)
- Peutz-Jegher syndrome (PJS)
- PTEN Hamartoma Tumor syndrome
- Rhabdoid Tumor Predisposition syndrome
- Tuberous Sclerosis Complex (TSC)
- Von Hippel Lindau (VHL) syndrome
- Wilms Tumor