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 Amplified | APC |
| Ataxia-telangiectasia , Louis-Barr syndrome, ATM-breast cancer susceptibility | ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility | ATM |
| Cancer, Breast, Hereditary Breast Cancer | BreastNext | ATM, BARD1, BRIP1, MRE11A, NBN, PALB2, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53 |
| Cancer, Breast, Colon, Uterine, Ovarian, Other, Hereditary Cancer Syndromes | CancerNext | ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, PALB2, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4 |
| CHEK2-Related Cancer | CHEK2-Related Cancer | CHEK2 |
| Cancer, Colon, Hereditary Colon Cancer | ColoNext | CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4 |
| Colon Cancer | Familial Adenomatous Polyposis Panel | |
| Hereditary Diffuse Gastric Cancer | Hereditary Diffuse Gastric Cancer | CDH1 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| Juvenile Polyposis Syndrome (JPS), HHT, SMAD4-Related | Juvenile Polyposis AMPLIFIED™ | BMPR1A, SMAD4 |
| Li-Fraumeni Syndrome | Li-Fraumeni Syndrome (TP53 AMPLIFIED) | TP53 |
| Malignant Melanoma, Cutaneous Malignant Melanoma Syndrome, Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) | Malignant Melanoma CDKN2A(p16INK4a)/ARF(p14ARF) | CDKN2A |
| 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 |
| Cancer, Ovarian, Breast Uterine, Hereditary Breast, Ovarian, and/or Uterine Cancer | OvaNext | ATM, BARD1, BRIP1, MRE11A, NBN, PALB2, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2 |
| PALB2-Related Cancer, Breast cancer, Familial, Fanconi Anemia, PALB2-Related | PALB2-Related Cancer | PALB2 |
| Peutz-Jeghers Syndrome | Peutz-Jeghers AMPLIFIED™ | STK11 |
| 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 | RAD51D |
| Retinoblastoma | Retinoblastoma | RB1 |
| Von Hippel-Lindau Disease | Von Hippel-Lindau Disease | VHL |