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Oncology
Genetic testing for hereditary and somatic cancers can provide life-changing results in affected patients and their relatives, accompanied by potential actionable steps for genetic-related cancers. With many different applications of genetic testing to detect and care for cancer, we can guide you in selecting the right options to enhance the treatment of your patients suffering from hereditary cancers. Having identified genetic variants associated with oncological diseases in more than 200 different genes, we can provide a comprehensive range to foster cancer diagnosis, prognosis, treatment selection, and monitoring.
BRCA1, BRCA2 panel
Breast cancer is the most common type of cancer in woman constituting around 25% of all females cases. Mutations in BRCA1 and BRCA2 can increase the risk of developing cancer.
| No. of genes: | 2 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Type: | Germline |
| Details: | Panel includes next-generation sequencing |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BRCA1, BRCA2 panel Combi (with MLPA)
| No. of genes: | 2 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Type: | Germline |
| Details: | Panel includes next-generation sequencing and MLPA |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BRCA1, BRCA2 panel Plus
| No. of genes: | 2 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Type: | Germline |
| Details: | Panel includes next-generation sequencing and CNV analysis |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
BRCA1, BRCA2 somatic mutation analysis
| No. of genes: | 2 |
| TAT: | 10 days |
| Coverage: | variable |
| Type: | Somatic |
| Details: | Panel includes next-generation sequencing |
COMMON SYNDROMES AND DISORDERS COVERED
Breast cancer
CentoBreast®
CentoBreast® detects mutations in the BRCA1 and BRCA2 genes, which are the most common hereditary causes for breast cancer. In addition, our panel includes other genes such as ATM, BRIP1, CHEK2, PALB2, RAD51, etc. which have also been associated with increased cancer risk. Breast cancer is one of the most common cancers in the world affecting ~12.5% of women during their lifetime, with 5–10% of these patients having a hereditary form.
| No. of genes: | 30 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Type: | Germline |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABRAXAS1 | 611143 | ||
| ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
| BARD1 | 601593 | familial breast-ovarian cancer type 2 | AD |
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
| BRIP1 | 605882 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J | AD |
| CDH1 | 192090 | familial breast-ovarian cancer type 2; blepharocheilodontic syndrome 1; Gastric Cancer, Hereditary Diffuse; Ovarian Cancer; Prostate Cancer; endometrial cancer | AD |
| CHEK2 | 604373 | familial breast-ovarian cancer type 2; Prostate Cancer; Osteogenic Sarcoma; Li-Fraumeni syndrome 2 | AD |
| DICER1 | 606241 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma | AD |
| EPCAM | 185535 | Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 | AR |
| FANCC | 613899 | Fanconi anemia of complementation group C | AR |
| MEN1 | 613733 | multiple endocrine neoplasia type 1 | AD |
| MLH1 | 120436 | Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 | AD, AR |
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
| MSH2 | 609309 | Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome | AD, AR |
| MSH6 | 600678 | mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 | AD, AR |
| MUTYH | 604933 | familial adenomatous polyposis type 2; Gastric Cancer | AR |
| NBN | 602667 | Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia | AR |
| PALB2 | 610355 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 | AD |
| PMS1 | 600258 | ||
| PMS2 | 600259 | mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 | AR |
| PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | |
| RAD51C | 602774 | Fanconi anemia of complementation group O; Breast-ovarian cancer, familial, susceptibility to, 3 | AR |
| RAD51D | 602954 | susceptibility to familial breast-ovarian cancer type 4 | |
| RECQL | 600537 | ||
| SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
| STK11 | 602216 | Peutz-Jeghers syndrome; Pancreatic Cancer; Spermatocytic seminoma, somatic | AD |
| TP53 | 191170 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer | AD |
| XRCC2 | 600375 | Fanconi anemia, complementation group U | AR |
COMMON SYNDROMES AND DISORDERS COVERED
Breast cancer
Ovarian cancer
CentoCancer®
Each gene in CentoCancer® has been carefully selected based on its risk potential in the development of one or more of the following cancers: breast, ovarian, colorectal, gastric, thyroid, endometrial, pancreatic, melanoma, renal, and prostate. This panel is appropiate for patients with positive personal history of early-onset cancer, rare cancer, bilateral cancer, or multiple primary cancers.
| No. of genes: | 70 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Type: | Germline |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABRAXAS1 | 611143 | ||
| APC | 611731 | colorectal cancer; Hepatocellular Carcinoma; Desmoid disease, hereditary; familial adenomatous polyposis; Gastric Cancer | AD |
| ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
| AXIN2 | 604025 | colorectal cancer; oligodontia-colorectal cancer syndrome | AD |
| BAP1 | 603089 | Tumor predisposition syndrome | AD |
| BARD1 | 601593 | familial breast-ovarian cancer type 2 | AD |
| BLM | 604610 | Bloom syndrome | AR |
| BMPR1A | 601299 | Juvenile polyposis syndrome, infantile form | AD |
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
| BRIP1 | 605882 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J | AD |
| CDH1 | 192090 | familial breast-ovarian cancer type 2; blepharocheilodontic syndrome 1; Gastric Cancer, Hereditary Diffuse; Ovarian Cancer; Prostate Cancer; endometrial cancer | AD |
| CDK4 | 123829 | Melanoma, Cutaneous Malignant, Susceptibility To, 3 | AD |
| CDKN2A | 600160 | Malignant melanoma 2; Pancreatic cancer/melanoma syndrome | AD |
| CHEK2 | 604373 | familial breast-ovarian cancer type 2; Prostate Cancer; Osteogenic Sarcoma; Li-Fraumeni syndrome 2 | AD |
| DICER1 | 606241 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma | AD |
| DIS3L2 | 614184 | Perlman syndrome | AR |
| EPCAM | 185535 | Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 | AR |
| FANCC | 613899 | Fanconi anemia of complementation group C | AR |
| FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
| FLCN | 607273 | colorectal cancer; Birt-Hogg-Dube syndrome; Renal carcinoma, chromophobe, somatic; primary spontaneous pneumothorax | AD |
| GALNT12 | 610290 | Colorectal cancer, susceptibility to, 1 | |
| HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
| HOXB13 | 604607 | Hereditary prostate cancer type 9 | |
| KIT | 164920 | Mast cell disease; Piebaldism; Spermatocytic seminoma, somatic; acute myeloid leukemia; gastrointestinal stromal tumor | AD |
| MC1R | 155555 | oculocutaneous albinism type 2; skin/hair/eye pigmentation 2; Melanoma, cutaneous malignant, susceptibility to, 5 | AR |
| MEN1 | 613733 | multiple endocrine neoplasia type 1 | AD |
| MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
| MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
| MLH1 | 120436 | Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 | AD, AR |
| MLH3 | 604395 | colorectal cancer; endometrial cancer; Colorectal cancer, hereditary nonpolyposis, type 7 | AD |
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
| MSH2 | 609309 | Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome | AD, AR |
| MSH3 | 600887 | endometrial cancer; Familial adenomatous polyposis 4 | AR |
| MSH6 | 600678 | mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 | AD, AR |
| MUTYH | 604933 | familial adenomatous polyposis type 2; Gastric Cancer | AR |
| NBN | 602667 | Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia | AR |
| NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| PALB2 | 610355 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 | AD |
| PMS1 | 600258 | ||
| PMS2 | 600259 | mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 | AR |
| POLD1 | 174761 | Colorectal cancer, susceptibility to type 10; MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME | AD |
| POLE | 174762 | Colorectal cancer, susceptibility to, 12; FILS syndrome | AD, AR |
| POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| PRSS1 | 276000 | hereditary pancreatitis | AD |
| PTCH1 | 601309 | Gorlin syndrome; Holoprosencephaly-7 | AD |
| PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | |
| RAD51C | 602774 | Fanconi anemia of complementation group O; Breast-ovarian cancer, familial, susceptibility to, 3 | AR |
| RAD51D | 602954 | susceptibility to familial breast-ovarian cancer type 4 | |
| RECQL | 600537 | ||
| RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
| RNF43 | 612482 | AD | |
| SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
| SDHAF2 | 613019 | paragangliomas type 2 | AD |
| SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
| SDHC | 602413 | Paragangliomas 3; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
| SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
| SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
| SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
| STK11 | 602216 | Peutz-Jeghers syndrome; Pancreatic Cancer; Spermatocytic seminoma, somatic | AD |
| TGFBR2 | 190182 | Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 | AD |
| TP53 | 191170 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer | AD |
| TSC1 | 605284 | tuberous sclerosis type 1 | AD |
| TSC2 | 191092 | tuberous sclerosis-2 | AD |
| VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
| WT1 | 607102 | Frasier syndrome; Mesothelioma, somatic; Wilms tumor, type 1; Denys-Drash syndrome; Nephrotic syndrome, type 4; Meacham syndrome | AD |
| XRCC2 | 600375 | Fanconi anemia, complementation group U | AR |
| XRCC3 | 600675 | familial breast-ovarian cancer type 2 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
Breast cancer
Colorectal cancer
Endometrial cancer
Familial adenomatous polyposis
Gastric cancer
Gastrointestinal stromal tumor
Melanoma
Ovarian cancer
Pancreatic cancer
Prostate cancer
Renal cancer
Skin cancer
Thyroid cancer
Uterine cancer
CentoCancer® comprehensive
CentoCancer® comprehensive is our most extensive cancer panel, covering a large number of cancer-associated genes. Each gene in this panel has been carefully selected based on its risk potential in the development of one or more of the following cancers: breast, ovarian, colorectal, gastric, thyroid, endometrial, pancreatic, melanoma, renal, and prostate, among others.
| No. of genes: | 110 |
| TAT: | 15 days |
| Coverage: | ~99% ≥20x |
| Type: | Germline |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABRAXAS1 | 611143 | ||
| ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| AKT1 | 164730 | familial breast-ovarian cancer type 2; colorectal cancer; Ovarian Cancer; Proteus Syndrome; Cowden syndrome 6 | |
| APC | 611731 | colorectal cancer; Hepatocellular Carcinoma; Desmoid disease, hereditary; familial adenomatous polyposis; Gastric Cancer | AD |
| ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
| AXIN2 | 604025 | colorectal cancer; oligodontia-colorectal cancer syndrome | AD |
| BAP1 | 603089 | Tumor predisposition syndrome | AD |
| BARD1 | 601593 | familial breast-ovarian cancer type 2 | AD |
| BLM | 604610 | Bloom syndrome | AR |
| BMPR1A | 601299 | Juvenile polyposis syndrome, infantile form | AD |
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
| BRIP1 | 605882 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group J | AD |
| BUB1B | 602860 | colorectal cancer; mosaic variegated aneuploidy syndrome 1 | AD, AR |
| CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
| CDC73 | 607393 | Hyperparathyroidism-jaw tumor syndrome | AD |
| CDH1 | 192090 | familial breast-ovarian cancer type 2; blepharocheilodontic syndrome 1; Gastric Cancer, Hereditary Diffuse; Ovarian Cancer; Prostate Cancer; endometrial cancer | AD |
| CDK4 | 123829 | Melanoma, Cutaneous Malignant, Susceptibility To, 3 | AD |
| CDKN1B | 600778 | Multiple endocrine neoplasia, type IV | AD |
| CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
| CDKN2A | 600160 | Malignant melanoma 2; Pancreatic cancer/melanoma syndrome | AD |
| CEBPA | 116897 | acute myeloid leukemia | AD |
| CHEK2 | 604373 | familial breast-ovarian cancer type 2; Prostate Cancer; Osteogenic Sarcoma; Li-Fraumeni syndrome 2 | AD |
| CTNNA1 | 116805 | AD | |
| DDX41 | 608170 | Susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms | AD |
| DICER1 | 606241 | Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma | AD |
| DIS3L2 | 614184 | Perlman syndrome | AR |
| EGFR | 131550 | Lung Cancer | AD, AR |
| EPCAM | 185535 | Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 | AR |
| ETV6 | 600618 | acute myeloid leukemia; Thrombocytopenia 5 | AD |
| EXT1 | 608177 | multiple exostoses type 1 | AD |
| EXT2 | 608210 | Exostoses, multiple, type 2; Seizures, scoliosis, and macrocephaly syndrome | AD, AR |
| FANCC | 613899 | Fanconi anemia of complementation group C | AR |
| FH | 136850 | Leiomyomatosis and renal cell cancer; Fumarase deficiency | AD, AR |
| FLCN | 607273 | colorectal cancer; Birt-Hogg-Dube syndrome; Renal carcinoma, chromophobe, somatic; primary spontaneous pneumothorax | AD |
| GALNT12 | 610290 | Colorectal cancer, susceptibility to, 1 | |
| GATA2 | 137295 | acute myeloid leukemia; Lymphedema, primary, with myelodysplasia; Immunodeficiency 21; Myelodysplastic syndrome, somatic | AD |
| GPC3 | 300037 | Wilms tumor, type 1; Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| GREM1 | 603054 | ||
| HNF1A | 142410 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Renal carcinoma, chromophobe, somatic; Diabetes mellitus, insulin-dependent-1; MODY type 3 | AD, AR |
| HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
| HOXB13 | 604607 | Hereditary prostate cancer type 9 | |
| HRAS | 190020 | Bladder Cancer; Melanocytic nevus syndrome, congenital, somatic; Nevus, Epidermal; Schimmelpenning-Feuerstein-Mims Syndrome; Thyroid Carcinoma, Follicular; Costello syndrome | AD |
| KIF1B | 605995 | type 2A1 Charcot-Marie-Tooth disease; pheochromocytoma | AD |
| KIT | 164920 | Mast cell disease; Piebaldism; Spermatocytic seminoma, somatic; acute myeloid leukemia; gastrointestinal stromal tumor | AD |
| MAX | 154950 | pheochromocytoma | AD |
| MC1R | 155555 | oculocutaneous albinism type 2; skin/hair/eye pigmentation 2; Melanoma, cutaneous malignant, susceptibility to, 5 | AR |
| MEN1 | 613733 | multiple endocrine neoplasia type 1 | AD |
| MET | 164860 | Hepatocellular Carcinoma; Renal cell carcinoma, papillary; deafness type 97 | AD, AR |
| MITF | 156845 | Albinism, Ocular, With Sensorineural Deafness; Tietz Syndrome; Waardenburg syndrome type 2A; Melanoma, Cutaneous Malignant, Susceptibility To, 8 | AD, AR |
| MLH1 | 120436 | Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 | AD, AR |
| MLH3 | 604395 | colorectal cancer; endometrial cancer; Colorectal cancer, hereditary nonpolyposis, type 7 | AD |
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
| MSH2 | 609309 | Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome | AD, AR |
| MSH3 | 600887 | endometrial cancer; Familial adenomatous polyposis 4 | AR |
| MSH6 | 600678 | mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 | AD, AR |
| MUTYH | 604933 | familial adenomatous polyposis type 2; Gastric Cancer | AR |
| NBN | 602667 | Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia | AR |
| NF1 | 613113 | neurofibromatosis type 1; Neurofibromatosis-Noonan syndrome; Leukemia, juvenile myelomonocytic | AD |
| NF2 | 607379 | neurofibromatosis type 2; Schwannomatosis; Meningioma, familial, susceptibility to | AD |
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| PALB2 | 610355 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 | AD |
| PDGFRA | 173490 | Hypereosinophilic Syndrome, Idiopathic | |
| PHOX2B | 603851 | congenital central hypoventilation syndrome | AD |
| PIK3CA | 171834 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Nevus, Epidermal; Ovarian Cancer; Keratosis, Seborrheic; Lung Cancer; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi; Gastric Cancer; Cowden syndrome 5 | |
| PMS1 | 600258 | ||
| PMS2 | 600259 | mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 | AR |
| POLD1 | 174761 | Colorectal cancer, susceptibility to type 10; MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME | AD |
| POLE | 174762 | Colorectal cancer, susceptibility to, 12; FILS syndrome | AD, AR |
| POT1 | 606478 | Melanoma, cutaneous malignant, susceptibility to, 10 | AD |
| PRKAR1A | 188830 | Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 | AD |
| PRSS1 | 276000 | hereditary pancreatitis | AD |
| PTCH1 | 601309 | Gorlin syndrome; Holoprosencephaly-7 | AD |
| PTCH2 | 603673 | Gorlin syndrome; Medulloblastoma | AD |
| PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
| RAD50 | 604040 | Nijmegen breakage syndrome-like disorder | |
| RAD51C | 602774 | Fanconi anemia of complementation group O; Breast-ovarian cancer, familial, susceptibility to, 3 | AR |
| RAD51D | 602954 | susceptibility to familial breast-ovarian cancer type 4 | |
| RB1 | 614041 | Bladder Cancer; retinoblastoma; Osteogenic Sarcoma | AD |
| RECQL | 600537 | ||
| REST | 600571 | AD | |
| RET | 164761 | Hirschsprung disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia 2B; pheochromocytoma; multiple endocrine neoplasia 2A; congenital central hypoventilation syndrome | AD |
| RNF43 | 612482 | AD | |
| RPS20 | 603682 | ||
| RUNX1 | 151385 | Platelet disorder, familial, with associated myeloid malignancy; acute myeloid leukemia | AD |
| SAMD9L | 611170 | Ataxia-pancytopenia syndrome | AD |
| SDHA | 600857 | mitochondrial complex II deficiency; Leigh syndrome; dilated cardiomyopathy-1GG; paragangliomas type 5 | AD, AR, M |
| SDHAF2 | 613019 | paragangliomas type 2 | AD |
| SDHB | 185470 | paragangliomas type 4; pheochromocytoma; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
| SDHC | 602413 | Paragangliomas 3; gastrointestinal stromal tumor; paraganglioma and gastric stromal sarcoma | AD |
| SDHD | 602690 | paragangliomas 1; pheochromocytoma; mitochondrial complex II deficiency; paraganglioma and gastric stromal sarcoma | AD, AR |
| SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
| SMARCA2 | 600014 | Nicolaides-Baraitser syndrome | AD |
| SMARCA4 | 603254 | Rhabdoid tumor predisposition syndrome 2; mental retardation-16 | AD |
| SMARCB1 | 601607 | Schwannomatosis; Rhabdoid tumors, somatic; Coffin-Siris syndrome 3 | AD |
| SMARCE1 | 603111 | Meningioma, familial, susceptibility to | AD |
| STK11 | 602216 | Peutz-Jeghers syndrome; Pancreatic Cancer; Spermatocytic seminoma, somatic | AD |
| SUFU | 607035 | Gorlin syndrome; Medulloblastoma; Meningioma, familial, susceptibility to | AD, AR |
| TERT | 187270 | acute myeloid leukemia; Dyskeratosis congenita 4; Bone marrow failure, telomere-related, 1 | AD, AR |
| TGFBR2 | 190182 | Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 | AD |
| TMEM127 | 613403 | pheochromocytoma | AD |
| TP53 | 191170 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer | AD |
| TRIP13 | 604507 | AR | |
| TSC1 | 605284 | tuberous sclerosis type 1 | AD |
| TSC2 | 191092 | tuberous sclerosis-2 | AD |
| VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
| WRN | 604611 | Werner syndrome | AR |
| WT1 | 607102 | Frasier syndrome; Mesothelioma, somatic; Wilms tumor, type 1; Denys-Drash syndrome; Nephrotic syndrome, type 4; Meacham syndrome | AD |
| XRCC2 | 600375 | Fanconi anemia, complementation group U | AR |
| XRCC3 | 600675 | familial breast-ovarian cancer type 2 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
Beckwith-Wiedemann syndrome
Breast cancer
Colorectal cancer
Endometrial cancer
Familial adenomatous polyposis
Gastric cancer
Gastrointestinal stromal tumor
Hereditary Paraganglioma/ Pheochromocytoma
Melanoma
Ovarian cancer
Pancreatic cancer
Paragangliomas/Pheochromocytoma/Gastrointestinal stromal
Prostate cancer
Renal cancer
Retinoblastoma
Rothmund-Thomson syndrome (Type 2)
Skin cancer
Thyroid cancer
Uterine cancer
CentoColon
CentoColon detects genes that are associated with colon, pancreatic, and gastric cancer.
| No. of genes: | 33 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Type: | Germline |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| APC | 611731 | colorectal cancer; Hepatocellular Carcinoma; Desmoid disease, hereditary; familial adenomatous polyposis; Gastric Cancer | AD |
| ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
| AXIN2 | 604025 | colorectal cancer; oligodontia-colorectal cancer syndrome | AD |
| BLM | 604610 | Bloom syndrome | AR |
| BMPR1A | 601299 | Juvenile polyposis syndrome, infantile form | AD |
| BRCA1 | 113705 | familial breast-ovarian cancer type 1; pancreatic cancer type 4; Fanconi anemia, complementation group S | AD, AR |
| BRCA2 | 600185 | familial breast-ovarian cancer type 2; Medulloblastoma; Prostate Cancer; Wilms tumor, type 1; Fanconi anemia complementation group D1; pancreatic cancer type 2 | AD, AR |
| CDH1 | 192090 | familial breast-ovarian cancer type 2; blepharocheilodontic syndrome 1; Gastric Cancer, Hereditary Diffuse; Ovarian Cancer; Prostate Cancer; endometrial cancer | AD |
| CDKN2A | 600160 | Malignant melanoma 2; Pancreatic cancer/melanoma syndrome | AD |
| CHEK2 | 604373 | familial breast-ovarian cancer type 2; Prostate Cancer; Osteogenic Sarcoma; Li-Fraumeni syndrome 2 | AD |
| EPCAM | 185535 | Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8 | AR |
| FLCN | 607273 | colorectal cancer; Birt-Hogg-Dube syndrome; Renal carcinoma, chromophobe, somatic; primary spontaneous pneumothorax | AD |
| GALNT12 | 610290 | Colorectal cancer, susceptibility to, 1 | |
| MLH1 | 120436 | Muir-Torre syndrome; mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-2 | AD, AR |
| MLH3 | 604395 | colorectal cancer; endometrial cancer; Colorectal cancer, hereditary nonpolyposis, type 7 | AD |
| MSH2 | 609309 | Lynch syndrome; Muir-Torre syndrome; mismatch repair cancer syndrome | AD, AR |
| MSH3 | 600887 | endometrial cancer; Familial adenomatous polyposis 4 | AR |
| MSH6 | 600678 | mismatch repair cancer syndrome; endometrial cancer; hereditary nonpolyposis colorectal cancer-5 | AD, AR |
| MUTYH | 604933 | familial adenomatous polyposis type 2; Gastric Cancer | AR |
| NBN | 602667 | Nijmegen breakage syndrome; Aplastic Anemia; Acute lymphoblastic leukemia | AR |
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| PALB2 | 610355 | familial breast-ovarian cancer type 2; Fanconi anemia of complementation group N; Pancreatic cancer, susceptibility to, 3 | AD |
| PMS2 | 600259 | mismatch repair cancer syndrome; hereditary nonpolyposis colorectal cancer-4 | AR |
| POLD1 | 174761 | Colorectal cancer, susceptibility to type 10; MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME | AD |
| POLE | 174762 | Colorectal cancer, susceptibility to, 12; FILS syndrome | AD, AR |
| PRSS1 | 276000 | hereditary pancreatitis | AD |
| PTEN | 601728 | Cowden syndrome 1; Cowden syndrome type 2; Bannayan-Riley-Ruvalcaba syndrome; Prostate Cancer; Macrocephaly/autism syndrome; Meningioma, familial, susceptibility to | AD |
| RNF43 | 612482 | AD | |
| SMAD4 | 600993 | Myhre syndrome; Juvenile polyposis syndrome, infantile form; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Pancreatic Cancer | AD |
| STK11 | 602216 | Peutz-Jeghers syndrome; Pancreatic Cancer; Spermatocytic seminoma, somatic | AD |
| TGFBR2 | 190182 | Esophageal cancer, somatic; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 | AD |
| TP53 | 191170 | familial breast-ovarian cancer type 2; colorectal cancer; Hepatocellular Carcinoma; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Osteogenic Sarcoma; Pancreatic Cancer | AD |
| VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
COMMON SYNDROMES AND DISORDERS COVERED
Colorectal cancer
Familial adenomatous polyposis
Gastric cancer
Hereditary nonpolyposis colorectal cancer
Pancreatic cancer
Myeloid tumor panel
Our myeloid tumor panel targets important regions within 35 genes that are frequently mutated in myeloid malignancies. Myeloid malignancies are clonal diseases of hematopoietic progenitor cells. Myeloid tumors represent the fourth most frequently diagnosed cancer in economically developed countries. The majority of myeloid tumors contain high numbers of somatic mutations, which are genetic changes that are not inherited but created within the tumor itself. Unlike inherited “germline” mutations, these somatic mutations are not transmitted to offspring. Somatic mutations significantly contribute to the pathogenesis, progression, and prognosis of myeloid malignancies.
| No. of genes: | 35 |
| TAT: | 10 days |
| Coverage: | >97% >200x |
| Type: | Somatic |
COMMON SYNDROMES AND DISORDERS COVERED
Acute myeloid leukemia
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
Myeloid tumor
Myeloproliferative neoplasms
Solid tumor panel
Our solid tumor panel provides full sequencing of 106 selected cancer-associated genes as well as the hotspot analysis of relevant cancer regions in 43 genes. It detects over 5,000 validated oncogenic variants and includes the latest evidence-based variants associated with treatment decisions in solid tumors. The panel has more than 25 genes with approved targeted therapies or those that are being currently tested in clinical trials. Furthermore, somatic variants with an impact on prognosis of the individual tumor or on the efficacy of standard anti-tumor therapy are captured. It covers more than 100 different types of somatic cancers, including adrenal, colon, hepatic, prostate, renal, skin, testicular, thyroid, glioma, esophageal, endometrial, and breast cancer, among others. The panel provides a better understanding of tumor behavior as well as its likelihood to respond to a treatment, contributing to tailored medicine for the patient, thus frequently leading to a better outcome or reduced adverse effects.
| No. of genes: | 149 |
| TAT: | 10 days |
| Coverage: | >97% >200x |
| Type: | Somatic |
