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| 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 | ||
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| BreastDx Clear™ | |||
| Test Code: | 1250 | ||
| Test Description | BreastDx Clear is a multi-gene test that analyzes 16 breast cancer susceptibility genes. Although all women have some risk of developing breast and/or ovarian cancer at some point in their lives, having a mutation in one of the breast cancer susceptibility genes increases this risk. Men who have a mutation in one of the breast cancer susceptibility genes have an increased risk of breast, prostate, pancreatic, gastric and other cancer types. | ||
| Genes Tested | GENE | ASSOCIATED CANCER(S) | SYNDROME |
| ATM | Breast, pancreatic | Ataxia-telangiectasia (if both copies of the gene are mutated) | |
| BARD1 | Breast, ovarian | ||
| 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 | |
| CHEK2 | Breast, colorectal | ||
| FANCC | Breast | Fanconi anemia (if both copies of the gene are mutated) | |
| MRE11A | Ovarian, breast | Ataxia-telangiectasia-like Syndrome (if both copies of the gene are mutated) | |
| 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) | |
| PTEN | Breast, uterine, colorectal, thyroid, kidney | Cowden Syndrome / PTEN Hamartoma Tumor Syndrome | |
| RAD51C | Breast, ovarian | Fanconi anemia (if both copies of the gene are mutated) | |
| RAD51D | Breast, ovarian | ||
| STK11 | Breast, ovarian, colorectal, gastric, pancreatic | Peutz-Jeghers Syndrome | |
| TP53 | Breast, brain, 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 | ||
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| ColoDx Clear™ | |||
| Test Code: | 1251 | ||
| Test Description | Colorectal cancer is the fourth most common type of cancer diagnosed in the United States and the second leading cause of cancer-related deaths in the country. ColoDx Clear is a multi-gene test focused on hereditary colon cancer syndromes. Pathogenic variants (mutations) in high-risk colorectal cancer genes are associated with several hereditary cancer syndromes and increase the risk of cancer in many organs. |
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| Genes Tested | GENE | ASSOCIATED CANCER(S) | SYNDROME |
| APC | Colorectal, pancreatic and other | Familial Adenomatous Polyposis syndrome, Gardner syndrome, and Turcot syndrome | |
| BMPR1A | Colorectal, gastric | Juvenile Polyposis syndrome | |
| EPCAM | Colorectal, gastric, endometrial, ovarian | Lynch (Hereditary non-polyposis colon cancer) syndrome | |
| MLH1 | Colorectal, gastric, endometrial, ovarian | Lynch (Hereditary non-polyposis colon cancer) syndrome | |
| 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 | |
| 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 | Colorectal, endometrial, breast, melanoma | Cowden syndrome | |
| SMAD4 | Colorectal, gastric | Juvenile Polyposis syndrome | |
| STK11 | Colorectal, endometrial, gastric, ovarian, breast, pancreatic | Peutz-Jeghers syndrome | |
| TP53 | Colorectal, breast, pancreatic and other | 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 | ||
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| ProstateDx Clear™ | |
| Test Code: | 1257 |
| Test Description: | The ProstateDx Clear™ Panel examines genes associated with an increased risk for prostate cancer. This test includes both well-established prostate cancer susceptibility genes, as well as candidate genes with limited evidence of an association with prostate cancer. |
| Genes Tested: | ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, TP53 |
| 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 |
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