ComprehensiveDx Clear™ |
Test Code: |
1248 |
Test Description |
ComprehensiveDx Clear is a comprehensive panel for hereditary breast, ovarian, uterine, colorectal, pancreatic, prostate and melanoma cancers. |
Genes Tested |
GENE |
ASSOCIATED CANCER(S) |
SYNDROME |
APC |
Colorectal, pancreatic and other |
Familial Adenomatous Polyposis syndrome, Gardner syndrome, and Turcot syndrome |
ATM |
Breast, pancreatic |
Ataxia-telangiectasia (if both copies of the gene are mutated) |
BAP1 |
Renal, melanoma, mesothelioma |
Familial Melanoma Cancer Syndrome |
BARD1 |
Breast, ovarian |
|
BMPR1A |
Colorectal, gastric, pancreatic |
Juvenile Polyposis syndrome |
BRCA1 |
Breast, ovarian, pancreatic, prostate, male breast |
Hereditary Breast and Ovarian Cancer syndrome |
BRCA2 |
Breast, ovarian, pancreatic, prostate, male breast, melanoma |
Hereditary Breast and Ovarian Cancer syndrome; |
Fanconi anemia (if both copies of the gene are mutated) |
BRIP1 |
Ovarian, breast |
Fanconi anemia (if both copies of the gene are mutated) |
CDH1 |
Breast, gastric, colorectal |
Hereditary Diffuse Gastric Cancer |
CDK4 |
Melanoma, pancreatic |
Familial Melanoma Cancer Syndrome |
CDKN2A |
Melanoma, pancreatic |
Familial Melanoma Cancer Syndrome |
CHEK2 |
Breast, colorectal |
|
DICER1 |
Lung, kidney, thyroid, ovarian |
|
EPCAM |
Colorectal, gastric, endometrial, ovarian |
Lynch (Hereditary non-polyposis colon cancer) syndrome |
FANCC |
Breast |
Fanconi anemia (if both copies of the gene are mutated) |
MRE11A |
Breast, ovarian |
Ataxia-telangiectasia-like Syndrome (if both copies of the gene are mutated) |
MSH2 |
Colorectal, gastric, endometrial, ovarian |
Lynch (Hereditary non-polyposis colon cancer) syndrome |
|
MSH6 |
Colorectal, endometrial |
Lynch (Hereditary non-polyposis colon cancer) syndrome |
|
MUTYH |
Colorectal |
MUTYH-associated Polyposis syndrome |
|
NBN |
Breast, melanoma, prostate |
Nijmegen breakage syndrome (if both copies of the gene are mutated) |
|
PALB2 |
Breast, ovarian, pancreatic, male breast |
Fanconi anemia (if both copies of the gene are mutated) |
|
PMS2 |
Colorectal, endometrial, gastric, ovarian |
Lynch (Hereditary non-polyposis colon cancer) syndrome |
|
POLD1 |
Colorectal, endometrial |
Familial Adenomatous Polyposis syndrome |
|
POLE |
Colorectal, gastrointestinal |
Familial Adenomatous Polyposis syndrome |
|
PTEN |
Breast, uterine, colorectal, thyroid, kidney, melanoma |
Cowden Syndrome / PTEN Hamartoma Tumor Syndrome |
|
RAD50 |
Ovarian |
|
|
RAD51C |
Breast, ovarian |
Fanconi anemia (if both copies of the gene are mutated) |
|
RAD51D |
Breast, ovarian |
|
|
SDHA |
Gastrointestinal, other |
Paragangliomas 5 |
|
SDHB |
Gastrointestinal, renal, other |
Paraganglioma and gastric stromal sarcoma |
|
SDHC |
Gastrointestinal, renal, other |
Paraganglioma and gastric stromal sarcoma |
|
SDHD |
Gastrointestinal, renal, other |
Cowden Syndrome 3; Paraganglioma and gastric stromal sarcoma |
|
SMAD4 |
Colorectal, gastric |
Juvenile Polyposis syndrome |
|
STK11 |
Colorectal, endometrial, gastric, ovarian, breast, pancreatic |
Peutz-Jeghers syndrome |
|
TP53 |
Colorectal, breast, pancreatic, sarcomas, gastrointestinal, adrenocortical, leukemia |
Li-Fraumeni syndrome |
Specimen Requirements |
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request) |
Turnaround Time (TAT) |
2-3 weeks |