Tests By Specialty- Cancer

Ambry Genetics has cataloged all of our tests and organized them below by specialty. The comprehensive listing of tests by specialty is organized in alphabetical order.

Disease Test Genes
Attenuated FAP (AFAP), Colorectal cancer, Familial adenomatous polyposis (FAP), Polyposis, MUTYH-Associated Polyposis (MAP) Adenomatous Polyposis APC, MUTYH
Ataxia-telangiectasia , Louis-Barr syndrome ATAXIA-TELANGIECTASIA ATM
Birt-Hogg-Dubé syndrome (BHDS), Pneumothorax, Primary Spontaneous (PSP), Kidney cancer Birt-Hogg-Dubé Syndrome FLCN
Hereditary breast and ovarian cancer , HBOC BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary Cancer , Hereditary Breast Ovarian Cancer (HBOC), Breast Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2, PALB2
Breast cancer, Hereditary cancer, Hereditary breast and ovarian cancer (HBOC) BRCAplus-EXPANDED ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
Breast cancer, Hereditary cancer, Hereditary breast and ovarian cancer (HBOC) BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PTEN, RAD50, RAD51C, RAD51D, TP53, PALB2
Breast cancer, Colorectal cancer, Hereditary breast and ovarian cancer (HBOC), Hereditary cancer, Lynch syndrome, Melanoma, Ovarian cancer, Pancreatic cancer, Polyposis, Uterine cancer CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, POLD1, POLE, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
Breast cancer, Colorectal cancer, Hereditary cancer, Kidney cancer, Melanoma , Ovarian cancer, Pancreatic cancer, Paraganglioma, Pheochromocytoma, Uterine cancer CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Melanoma, Cutaneous malignant melanoma syndrome, Familial atypical mole-malignant melanoma syndrome (FAMMM), Melanoma-Pancreatic cancer syndrome (M-PCS), Pancreatic cancer CDKN2A and CDK4 Testing CDKN2A, CDK4
CHEK2-related cancer CHEK2-Related Cancer CHEK2
Colorectal cancer, Hereditary cancer, Lynch syndrome, Polyposis ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Breast cancer, Brain tumors, Colorectal cancer, Hereditary cancer, Kidney cancer, Melanoma, Ovarian cancer, Pancreatic cancer, Paraganglioma, Pheochromocytoma, Prostate cancer, Stomach cancer, Uterine cancer CustomNext-Cancer APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FLCN, GALNT12, HOXB13, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2, PALB2, FH, MEN1, SMARCA4, BAP1, POLD1, POLE, GREM1
Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) Familial Adenomatous Polyposis APC
Colorectal cancer, Polyposis GREM1 Duplication Analysis GREM1
Uterine cancer, Ovarian cancer, Hereditary cancer, Hereditary breast and ovarian cancer (HBOC), Lynch syndrome GYNplus BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53
Hereditary diffuse gastric cancer, Gastric cancer Hereditary Diffuse Gastric Cancer CDH1
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), Leiomyomatosis and Renal Cell Cancer (LRCC), Leiomyoma, Multiple Cutaneous (MCL), Kidney cancer Hereditary Leiomyomatosis and Renal Cell Cancer FH
Juvenile polyposis syndrome (JPS), Hereditary hemorrhagic telangiectasia (HHT) Juvenile Polyposis Syndrome BMPR1A, SMAD4
Li-Fraumeni syndrome LI-FRAUMENI SYNDROME TP53
Colorectal cancer, HNPCC (hereditary non-polyposis colorectal cancer), Lynch syndrome, Muir-Torre syndrome, Turcot syndrome, Uterine cancer Lynch Syndrome EPCAM, MLH1, MSH2, MSH6, PMS2
Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) Multiple Endocrine Neoplasia Type 2 (MEN2) RET
Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type1 (MEN1) MEN1
MUTYH-associated polyposis (MAP), Colorectal cancer, Polyposis MUTYH-associated Polypsis (MAP) MUTYH
Neurofibromatosis 1 , von Recklinghausen disease Neurofibromatosis 1 (NF1) NF1
Nevoid basal cell carcinoma syndrome (NBCCS), Gorlin syndrome, Basal Cell Nevus Syndrome (BCNS) NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME) PTCH1
Breast cancer, Hereditary cancer, Hereditary breast and ovarian cancer (HBOC), Lynch syndrome, Ovarian cancer, Uterine cancer OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, PALB2, SMARCA4
Fanconi anemia, Breast cancer, Pancreatic cancer PALB2 Gene Sequence and Deletion/Duplication PALB2
Hereditary cancer, Pancreatic cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53, PALB2
Peutz-Jeghers syndrome, Polyposis, Colorectal cancer Peutz-Jeghers Syndrome STK11
Hereditary paraganglioma-pheochromocytoma syndrome, Neuroendocrine tumors, Paraganglioma, Pheochromocytoma PGLFirst MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127, SDHA
Hereditary cancer, Hereditary paraganglioma-pheochromocytoma syndrome, Neuroendocrine tumors, Paraganglioma, Pheochromocytoma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome, DICER1 Syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Colorectal cancer, Polyposis POLD1 and POLE Analysis POLD1, POLE
PTEN-related disorders , Cowden syndrome, PTEN hamartoma tumor syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism spectrum disorder with macrocephaly PTEN-Related Disorders PTEN
Hereditary cancer, Kidney cancer, Renal cell carcinoma RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA, FH, BAP1
Retinoblastoma Retinoblastoma RB1
Tuberous sclerosis complex (TSC) Tuberous Sclerosis Complex TSC1, TSC2
von Hipple-Lindau (VHL) disease Von Hippel-Lindau Disease VHL