Hereditary Cancer Testing

GenPath offers a comprehensive menu of testing options for hereditary cancer syndromes, going beyond BRCA to ensure that our test options meet each individual patient’s needs.

Through our sister company, GeneDx, over 45,000 cases have been tested for pathogenic (harmful) variants in genes that increase an individual’s┬árisk for acquiring cancer. GeneDx is a pioneer in the inherited disorders industry:

  • They were the first to commercially launch next-generation sequencing (NGS) in 2008 and,
  • They employ thought-leaders who are co-authors of established guidelines, such as the ACMG guidelines on NGS.

 

GeneDx Development Timeline:
GeneDx Timeline 7.18.16

 

TEST OPTIONS FOR HEREDITARY CANCER PANELS


Breast Cancer
BRCA1/BRCA2 AJ Founder Panel
BRCA1 c.68_69delAG, c.5266dupC, BRCA2 c.5946delT
Breast / Ovarian Cancer Panel
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM*, FANCC, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, XRCC2 (*EPCAM is deletion/duplication only )
Breast Cancer
High/Moderate Risk Panel
ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
Breast Surgical Panel
BRCA1, BRCA2, PALB2
Colorectal Cancer
Lynch / Colorectal
High Risk Panel
APC, EPCAM*, MLH1, MSH2, MSH6, MUTYH, PMS2 (*EPCAM is deletion/duplication only)
Colorectal Cancer Panel
APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM*, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, POLD1, POLE, SCG5/GREM1*, SMAD4, STK11, TP53 (*testing includes deletion/duplication analysis only )
Lynch Syndrome Custom Panel
MLH1, MSH2, MSH6, PMS2, EPCAM*(*EPCAM is deletion/duplication only )
 
 
Urologic Cancer
Prostate Panel
ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, TP53 .
Renal Cell Carcinoma Cancer Panel
BAP1, EPCAM , FH, FLCN, MET, MITF (E318 only), MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL (*EPCAM is deletion/duplication only ).
 
 
 
Other Cancer
Comprehensive Cancer Panel
APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM*, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, POLD1, POLE, RAD51C, RAD51D, SCG5/GREM1*, SMAD4, STK11, TP53, VHL, XRCC2 (* testing includes deletion/duplication analysis only ).
High / Moderate Risk Panel
APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1,CDH1, CDKN2A, CHEK2, EPCAM*, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL (*EPCAM is deletion/duplication only)
Pancreatic Cancer Panel
APC, ATM, BRCA1, BRCA2, CDK4, CDKN2A, EPCAM*, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL, XRCC2 (*EPCAM is deletion/duplication only )
Endometrial Cancer Panel
BRCA1, BRCA2, CHEK2, EPCAM*, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, TP53 (* testing includes deletion/duplication analysis only).

FORMS TO DOWNLOAD
Family Hx Questionnaire Medicare Criteria Form Hereditary Cancer TRF Prefilled ABN Form
Fam Hx Q thumbnail Medicare Thumbnail IC req thumbnail ABN thumbnail