List of diseases covered by
Cancer Predisposition NGS panel
| Gene | Condition |
| AIP | Pituitary adenoma 1, multiple types |
| ALK | Neuroblastoma, susceptibility to, 3 |
| APC | Adenomatous polyposis coli; Colorectal cancer, somatic; Desmoid disease, hereditary; Gardner syndrome; Gastric cancer, somatic; Hepatoblastoma, somatic |
| ATM | Ataxia-telangiectasia; Breast cancer, susceptibility to |
| BAP1 | Tumor predisposition syndrome |
| BARD1 | Breast cancer, susceptibility to |
| BLM | Bloom syndrome |
| BMPR1A | Juvenile polyposis syndrome, infantile form; Polyposis syndrome, hereditary mixed, 2 |
| BRCA1 | Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S |
| BRCA2 | Fanconi anemia, complementation group D1; Wilms tumor; Breast cancer, male, susceptibility to; Breast-ovarian cancer, familial, 2; Glioblastoma 3; Medulloblastoma; Pancreatic cancer 2; Prostate cancer |
| BRIP1 | Breast cancer, early-onset; Fanconi anemia, complementation group J |
| BUB1B | Colorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer, somatic |
| CDC73 | Hyperparathyroidism, familial primary; Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma |
| CDH1 | Breast cancer, lobular; Prostate cancer, susceptibility to; Endometrial carcinoma, somatic; Ovarian carcinoma, somatic; Blepharocheilodontic syndrome 1; Gastric cancer, familial diffuse, with or without cleft lip and/or palate |
| CDK4 | Melanoma, cutaneous malignant, 3 |
| CDKN1C | Beckwith-Wiedemann syndrome; IMAGE syndrome |
| CDKN2A | Melanoma and neural system tumor syndrome; Pancreatic cancer/melanoma syndrome; Melanoma, cutaneous malignant, 2 |
| CEBPA | Leukemia, acute myeloid |
| CEP57 | Mosaic variegated aneuploidy syndrome 2 |
| CHEK2 | Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to; Li-Fraumeni syndrome; Osteosarcoma, somatic |
| CYLD | Trichoepithelioma, multiple familial, 1; Brooke-Spiegler syndrome; Cylindromatosis, familial |
| DDB2 | Xeroderma pigmentosum, group E, DDB-negative subtype |
| DICER1 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2 |
| DIS3L2 | Perlman syndrome |
| EGFR | Adenocarcinoma of lung, response to tyrosine kinase inhibitor in |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8; Diarrhea 5, with tufting enteropathy, congenital |
| ERCC2 | Xeroderma pigmentosum, group D; Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive |
| ERCC3 | Xeroderma pigmentosum, group B; Trichothiodystrophy 2, photosensitive |
| ERCC4 | Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q; XFE progeroid syndrome |
| ERCC5 | Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 |
| EXT1 | Chondrosarcoma; Exostoses, multiple, type 1 |
| EXT2 | Exostoses, multiple, type 2; Seizures, scoliosis, and macrocephaly syndrome |
| EZH2 | Weaver syndrome |
| FANCA | Fanconi anemia, complementation group A |
| FANCB | Fanconi anemia, complementation group B |
| FANCC | Fanconi anemia, complementation group C |
| FANCD2 | Fanconi anemia, complementation group D2 |
| FANCE | Fanconi anemia, complementation group E |
| FANCF | Fanconi anemia, complementation group F |
| FANCG | Fanconi anemia, complementation group G |
| FANCI | Fanconi anemia, complementation group I |
| FANCL | Fanconi anemia, complementation group L |
| FH | Leiomyomatosis and renal cell cancer; Fumarase deficiency |
| FLCN | Birt-Hogg-Dube syndrome; Pneumothorax, primary spontaneous; Colorectal cancer, somatic; Renal carcinoma, chromophobe, somatic |
| GATA2 | Emberger syndrome; Immunodeficiency 21; Leukemia, acute myeloid, susceptibility to; Myelodysplastic syndrome, susceptibility to |
| GPC3 | Simpson-Golabi-Behmel syndrome, type 1; Wilms tumor, somatic |
| HNF1A | Renal cell carcinoma; Hepatic adenoma, somatic; Diabetes mellitus, insulin-dependent, 20; MODY, type III; Diabetes mellitus, insulin-dependent; Diabetes mellitus, noninsulin-dependent, 2 |
| HRAS | Costello syndrome; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Bladder cancer, somatic; Nevus sebaceous or woolly hair nevus, somatic; Spitz nevus or nevus spilus, somatic; Thyroid carcinoma, follicular, somatic |
| KIT | Gastrointestinal stromal tumor, familial; Germ cell tumors, somatic; Leukemia, acute myeloid; Mastocytosis, cutaneous; Piebaldism |
| MAX | Pheochromocytoma, susceptibility to |
| MEN1 | Multiple endocrine neoplasia 1 |
| MET | Hepatocellular carcinoma, childhood type, somatic; Renal cell carcinoma, papillary, 1, familial and somatic; Deafness, autosomal recessive 97; Osteofibrous dysplasia, susceptibility to |
| MITF | Melanoma, cutaneous malignant, susceptibility to, 8; COMMAD syndrome; Tietz albinism-deafness syndrome; Waardenburg syndrome, type 2A; Waardenburg syndrome/ocular albinism, digenic |
| MLH1 | Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome |
| MRE11A | Ataxia-telangiectasia-like disorder 1 |
| MSH2 | Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome |
| MSH6 | Mismatch repair cancer syndrome; Colorectal cancer, hereditary nonpolyposis, type 5; Endometrial cancer, familial |
| MUTYH | Adenomas, multiple colorectal; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; Gastric cancer, somatic |
| NBN | Nijmegen breakage syndrome; Leukemia, acute lymphoblastic; Aplastic anemia |
| NF1 | Neurofibromatosis, type 1 |
| NF2 | Meningioma, NF2-related, somatic; Neurofibromatosis, type 2; Schwannomatosis, somatic |
| NSD1 | Leukemia, acute myeloid; Sotos syndrome 1 |
| NTHL1 | Familial adenomatous polyposis 3 |
| PALB2 | Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3; Fanconi anemia, complementation group N |
| PHOX2B | Neuroblastoma with Hirschsprung disease; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease |
| POLD1 | Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
| PRF1 | Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2; Lymphoma, non-Hodgkin |
| PRKAR1A | Acrodysostosis 1, with or without hormone resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 |
| PRSS1 | Pancreatitis, hereditary; Trypsinogen deficiency |
| PTCH1 | Basal cell nevus syndrome; Holoprosencephaly 7; Basal cell carcinoma, somatic |
| PTEN | Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome; Endometrial carcinoma, somatic; Malignant melanoma, somatic; Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic; VATER association with macrocephaly and ventriculomegaly; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 |
| RAD50 | Nijmegen breakage syndrome-like disorder |
| RAD51C | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia, complementation group O |
| RAD51D | Breast-ovarian cancer, familial, susceptibility to, 4 |
| RB1 | Bladder cancer, somatic; Osteosarcoma, somatic; Retinoblastoma; Small cell cancer of the lung, somatic |
| RECQL4 | Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome |
| RET | Medullary thyroid carcinoma; Central hypoventilation syndrome, congenital; Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB; Pheochromocytoma; Hirschsprung disease, susceptibility to, 1 |
| RHBDF2 | Tylosis with esophageal cancer |
| RUNX1 | Leukemia, acute myeloid; Platelet disorder, familial, with associated myeloid malignancy |
| SBDS | Shwachman-Diamond syndrome; Aplastic anemia, susceptibility to |
| SDHA | Cardiomyopathy, dilated, 1GG; Leigh syndrome; Mitochondrial respiratory chain complex II deficiency; Paragangliomas 5 |
| SDHAF2 | Paragangliomas 2 |
| SDHB | Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 3 |
| SDHD | Carcinoid tumors, intestinal; Cowden syndrome 3; Mitochondrial complex II deficiency; Paraganglioma and gastric stromal sarcoma; Pheochromocytoma |
| SLX4 | Fanconi anemia, complementation group P |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal |
| SMARCB1 | Coffin-Siris syndrome 3; Rhabdoid tumor predisposition syndrome 1; Schwannomatosis-1, susceptibility to |
| STK11 | Pancreatic cancer; Peutz-Jeghers syndrome; Testicular tumor, somatic |
| SUFU | Basal cell nevus syndrome; Joubert syndrome 32; Medulloblastoma, desmoplastic; Meningioma, familial, susceptibility to |
| TMEM127 | Pheochromocytoma, susceptibility to |
| TP53 | Breast cancer; Adrenal cortical carcinoma; Choroid plexus papilloma; Colorectal cancer; Li-Fraumeni syndrome; Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer; Basal cell carcinoma 7; Glioma susceptibility 1 |
| TSC1 | Focal cortical dysplasia, type II, somatic; Lymphangioleiomyomatosis; Tuberous sclerosis-1 |
| TSC2 | Focal cortical dysplasia, type II, somatic; Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2 |
| VHL | Erythrocytosis, familial, 2; Pheochromocytoma; Renal cell carcinoma, somatic; von Hippel-Lindau syndrome |
| WRN | Werner syndrome |
| WT1 | Wilms tumor, type 1; Denys-Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, somatic; Nephrotic syndrome, type 4 |
| XPA | Xeroderma pigmentosum, group A |
| XPC | Xeroderma pigmentosum, group C |
| XRCC2 | Fanconi anemia, complementation group U |