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
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
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