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
Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) APC Analysis APC
Ataxia-telangiectasia , Louis-Barr syndrome, ATM-breast cancer susceptibility ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility ATM
Hereditary breast-ovarian cancer syndrome , HBOC, BRCA1/2 BRCA1 AND BRCA2 BRCA1, BRCA2
Hereditary Cancer , Hereditary Breast Ovarian Cancer (HBOC), Breast Cancer BRCAplus CDH1, PTEN, TP53, BRCA1, BRCA2
Breast Cancer, Hereditary Cancer, Hereditary Breast Ovarian Cancer (HBOC) BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, TP53
Breast Cancer, Colorectal Cancer, Uterine Cancer, Ovarian Cancer, Pancreatic Cancer, Melanoma, Hereditary Cancer, Hereditary Breast Ovarian Cancer (HBOC), Lynch Syndrome, Polyposis CancerNext ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4, BRCA1, BRCA2, CDKN2A, NF1, RAD51D, PALB2
Cancer, Breast, Colon, Uterine, Ovarian, Renal, Pancreatic, Paraganglioma, Melanoma, Other Hereditary Cancer Syndromes CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDKN2A, CHEK2, EPCAM, FH, 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
Malignant Melanoma, Cutaneous Malignant Melanoma Syndrome, Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) CDKN2A and CDK4
CHEK2-Related Cancer CHEK2-Related Cancer CHEK2
Colorectal cancer, Lynch Syndrome, Polyposis, Hereditary Cancer ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
Diamond-Blackfan anemia Diamond-Blackfan Anemia RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26
Dyskeratosis Congenita Dyskeratosis Congenita DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
Hereditary ovarian cancer, Hereditary uterine cancer, Cancer, ovarian, and uterine GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
Hereditary Diffuse Gastric Cancer Hereditary Diffuse Gastric Cancer CDH1
Juvenile Polyposis Syndrome (JPS), HHT, SMAD4-Related Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4
Li-Fraumeni Syndrome Li-Fraumeni Syndrome (TP53 AMPLIFIED) TP53
HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch syndrome, Muir-Torre syndrome, Turcot syndrome LYNCH SYNDROME/HNPCC DNA ANALYSIS 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) MUTYH-associated Polypsis (MAP) MUTYH
Neurofibromatosis type 1, Von Recklinghausen disease , Neurofibromatosis type 1-like syndrome, Legius syndrome Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
Breast Cancer, Uterine Cancer, Ovarian Cancer, Hereditary Cancer, Hereditary Breast Ovarian Cancer (HBOC), Lynch Syndrome OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53
Fanconi anemia PALB2 Gene Sequence and Deletion/Duplication PALB2
Pancreatic Cancer, Hereditary Cancer PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, STK11, TP53
Peutz-Jeghers Syndrome Peutz-Jeghers AMPLIFIED™ STK11
Paraganglioma(s), Pheochromocytoma(s), Hereditary Paraganglioma-Pheochromocytoma Syndrome , Neuroendocrine Tumors, Autonomic Nervous System Tumors PGLNext MAX, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, SDHA
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome, DICER1 Syndrome Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome DICER1
Nevoid basal cell-carcinoma syndrome (NBCCS), Gorlin syndrome PTCH1/Nevoid Basal Cell-Carcinoma Syndrome PTCH1
PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN Hamartoma Tumor syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder PTEN-Related Disorders (including Autism Spectrum Disorder) PTEN
RAD51D - associated cancer risk RAD51D
Cancer, Renal, Hereditary Renal Cancer, Renal Cell Carcinoma RenalNext MLH1, MSH2, MSH6, PMS2, PTEN, TP53, VHL, FH, EPCAM, FLCN, TSC2, TSC1, SDHB, MET, MITF, SDHC, SDHD, SDHA
Retinoblastoma Retinoblastoma RB1
Von Hippel-Lindau Disease Von Hippel-Lindau Disease VHL