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.

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BRCA1, BRCA2

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

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM

BRCA1, BRCA2 Combi (With MLPA)

No. of genes:	2
TAT:	15 days
Coverage:	≥99.5% ≥20x
Type:	Germline
Details:	Panel includes next-generation sequencing and MLPA

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM

BRCA1, BRCA2 Plus

No. of genes:	2
TAT:	15 days
Coverage:	≥99.5% ≥20x
Type:	Germline
Details:	Panel includes next-generation sequencing and CNV analysis

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM

BRCA1, BRCA2 Somatic

No. of genes:	2
TAT:	10 days
Coverage:	variable
Type:	Somatic
Details:	Panel includes next-generation sequencing

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM

COMMON SYNDROMES AND DISORDERS COVERED

Breast cancer

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CENTOGENE NGS Panels for Hereditary Cancers

Hereditary Cancer Panels – Product Sheet

Genetic testing for an improved prognosis

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CENTOGENE BRCA1/2 Broschure Breast Cancer Testing

BRCA1/ BRCA2 Brochure

Think about tomorrow, today – Breast cancer testing

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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

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABRAXAS1	611143
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
BARD1	601593	Breast cancer, susceptibility to	AD, SM
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
BRIP1	605882	Fanconi anemia, complementation group J;Breast cancer, early-onset, susceptibility to	AD, SM
CDH1	192090	Prostate cancer, susceptibility to;Breast cancer, lobular;Blepharocheilodontic syndrome 1;Ovarian cancer, somatic;Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate;Endometrial carcinoma, somatic	AD, SM, AD
CHEK2	604373	Prostate cancer, familial, susceptibility to;Colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Osteosarcoma, somatic;Li-Fraumeni syndrome	AD, SM
DICER1	606241	Pleuropulmonary blastoma;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;GLOW syndrome, somatic mosaic;Rhabdomyosarcoma, embryonal, 2	AD
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital	AR
FANCC	613899	Fanconi anemia, complementation group C	AR
MEN1	613733	Multiple endocrine neoplasia 1	AD
MLH1	120436	Mismatch repair cancer syndrome 1;Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 2	AR, AD
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MSH2	609309	Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 1;Mismatch repair cancer syndrome 2	AD, AR
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5;Endometrial cancer, familial;Mismatch repair cancer syndrome 3	AD, AD, SM, AR
MUTYH	604933	Adenomas, multiple colorectal;Gastric cancer, somatic	AR
NBN	602667	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome	AR
PALB2	610355	Pancreatic cancer, susceptibility to, 3;Fanconi anemia, complementation group N;Breast cancer, susceptibility to	AD, SM
PMS1	600258
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome 4	AR
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
RAD50	604040	Nijmegen breakage syndrome-like disorder	AR
RAD51C	602774	Fanconi anemia, complementation group O;Breast-ovarian cancer, familial, susceptibility to, 3	AR
RAD51D	602954	Breast-ovarian cancer, familial, susceptibility to, 4
RECQL	600537
SMARCA4	603254	Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2	AD
STK11	602216	Peutz-Jeghers syndrome;Melanoma, malignant, somatic;Testicular tumor, somatic;Pancreatic cancer, somatic	AD
TP53	191170	Hepatocellular carcinoma, somatic;Bone marrow failure syndrome 5;Basal cell carcinoma 7;Nasopharyngeal carcinoma, somatic;Choroid plexus papilloma;Glioma susceptibility 1;Pancreatic cancer, somatic;Breast cancer, somatic;Li-Fraumeni syndrome;Adrenocortical carcinoma, pediatric;Osteosarcoma;Colorectal cancer	AD, AD, SM, SM
XRCC2	600375	Spermatogenic failure;?Fanconi anemia, complementation group U;?Premature ovarian failure 17	AR

COMMON SYNDROMES AND DISORDERS COVERED

Breast cancer
Ovarian cancer

Available Downloads

CentoBreast Brochure

Knowledge today. Action tomorrow.

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Hereditary Cancer Panels – Product Sheet

Genetic testing for an improved prognosis

Download EN

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
New Coverage:	≥99.0% ≥20x
Type:	Germline
Details:	CNV analysis included

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABRAXAS1	611143
ACVRL1	601284	Telangiectasia, hereditary hemorrhagic, type 2	AD
AKT1	164730	Breast cancer, somatic;Cowden syndrome 6;Colorectal cancer, somatic;Ovarian cancer, somatic;Proteus syndrome, somatic
APC	611731	Colorectal cancer, somatic;Gastric cancer, somatic;Gastric adenocarcinoma and proximal polyposis of the stomach;Desmoid disease, hereditary;Adenomatous polyposis coli;Gardner syndrome;Brain tumor-polyposis syndrome 2;Hepatoblastoma, somatic	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
AXIN2	604025	Oligodontia-colorectal cancer syndrome;Colorectal cancer, somatic	AD
BAP1	603089	Tumor predisposition syndrome;Kury-Isidor syndrome	AD
BARD1	601593	Breast cancer, susceptibility to	AD, SM
BLM	604610	Bloom syndrome	AR
BMPR1A	601299	Polyposis, juvenile intestinal;Juvenile polyposis syndrome, infantile form;Polyposis syndrome, hereditary mixed, 2	AD
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
BRIP1	605882	Fanconi anemia, complementation group J;Breast cancer, early-onset, susceptibility to	AD, SM
BUB1B	602860	[Premature chromatid separation trait];Colorectal cancer, somatic;Mosaic variegated aneuploidy syndrome 1	AD, AR
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8;Hypocalcemia, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD	AD, AD, AR
CDC73	607393	Hyperparathyroidism, familial primary;Parathyroid carcinoma;Parathyroid adenoma with cystic changes;Hyperparathyroidism-jaw tumor syndrome	AD
CDH1	192090	Prostate cancer, susceptibility to;Breast cancer, lobular;Blepharocheilodontic syndrome 1;Ovarian cancer, somatic;Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate;Endometrial carcinoma, somatic	AD, SM, AD
CDK4	123829	Melanoma, cutaneous malignant, 3	AD
CDKN1B	600778	Multiple endocrine neoplasia, type IV	AD
CDKN1C	600856	IMAGE syndrome;Beckwith-Wiedemann syndrome	AD
CDKN2A	600160	Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, 2	AD
CEBPA	116897	?Leukemia, acute myeloid;Leukemia, acute myeloid, somatic	AD, SM
CHEK2	604373	Prostate cancer, familial, susceptibility to;Colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Osteosarcoma, somatic;Li-Fraumeni syndrome	AD, SM
CTNNA1	116805	Macular dystrophy, patterned, 2	AD
DDX41	608170	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	AD
DICER1	606241	Pleuropulmonary blastoma;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;GLOW syndrome, somatic mosaic;Rhabdomyosarcoma, embryonal, 2	AD
DIS3L2	614184	Perlman syndrome	AR
EGFR	131550	Nonsmall cell lung cancer, susceptibility to;?Inflammatory skin and bowel disease, neonatal, 2;Adenocarcinoma of lung, response to tyrosine kinase inhibitor in;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in	AD, SM, AR
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital	AR
ETV6	600618	Leukemia, acute myeloid, somatic;Thrombocytopenia 5	AD
EXT1	608177	Chondrosarcoma;Exostoses, multiple, type 1	SM, AD
EXT2	608210	Exostoses, multiple, type 2;Seizures, scoliosis, and macrocephaly syndrome	AD, AR
FANCC	613899	Fanconi anemia, complementation group C	AR
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FLCN	607273	Birt-Hogg-Dube syndrome;Pneumothorax, primary spontaneous;Renal carcinoma, chromophobe, somatic;Colorectal cancer, somatic	AD
GALNT12	610290	Colorectal cancer, susceptibility to, 1
GATA2	137295	Myelodysplastic syndrome, susceptibility to;Leukemia, acute myeloid, susceptibility to;Emberger syndrome;Immunodeficiency 21	AD, SM, AD
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic	XLR
GREM1	603054
HNF1A	142410	Diabetes mellitus, insulin-dependent;Diabetes mellitus, insulin-dependent, 20;MODY, type III;Diabetes mellitus, noninsulin-dependent, 2;Hepatic adenoma, somatic;Renal cell carcinoma	AR, AD
HNF1B	189907	Renal cysts and diabetes syndrome;Diabetes mellitus, noninsulin-dependent;Renal cell carcinoma	AD
HOXB13	604607	Prostate cancer, hereditary, 9
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
KIF1B	605995	?Charcot-Marie-Tooth disease, type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1	AD, AD, SM
KIT	164920	Gastrointestinal stromal tumor, familial;Germ cell tumors, somatic;Piebaldism;Leukemia, acute myeloid, somatic;Mastocytosis, systemic, somatic;Mastocytosis, cutaneous	AD, IC, AD
MAX	154950	Pheochromocytoma, susceptibility to	AD
MC1R	155555	[Skin/hair/eye pigmentation 2, blond hair/fair skin];[Skin/hair/eye pigmentation 2, red hair/fair skin];Melanoma, cutaneous malignant, 5;UV-induced skin damage;[Analgesia from kappa-opioid receptor agonist, female-specific];Albinism, oculocutaneous, type II, modifier of	AR
MEN1	613733	Multiple endocrine neoplasia 1	AD
MET	164860	Hepatocellular carcinoma, childhood type, somatic;?Deafness, autosomal recessive 97;Osteofibrous dysplasia, susceptibility to;Renal cell carcinoma, papillary, 1, familial and somatic	AR, AD
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome	AD, AR
MLH1	120436	Mismatch repair cancer syndrome 1;Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 2	AR, AD
MLH3	604395	Colorectal cancer, somatic;Endometrial cancer, susceptibility to;Colorectal cancer, hereditary nonpolyposis, type 7	AD, SM
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MSH2	609309	Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 1;Mismatch repair cancer syndrome 2	AD, AR
MSH3	600887	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4	AR
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5;Endometrial cancer, familial;Mismatch repair cancer syndrome 3	AD, AD, SM, AR
MUTYH	604933	Adenomas, multiple colorectal;Gastric cancer, somatic	AR
NBN	602667	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome	AR
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NF2	607379	Neurofibromatosis, type 2;Schwannomatosis, somatic;Meningioma, NF2-related, somatic	AD
NTHL1	602656	Familial adenomatous polyposis 3	AR
PALB2	610355	Pancreatic cancer, susceptibility to, 3;Fanconi anemia, complementation group N;Breast cancer, susceptibility to	AD, SM
PDGFRA	173490	Hypereosinophilic syndrome, idiopathic, resistant to imatinib;Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	IC, SM
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease	AD
PIK3CA	171834	Keratosis, seborrheic, somatic;Ovarian cancer, somatic;CLAPO syndrome, somatic;Macrodactyly, somatic;CLOVE syndrome, somatic;Gastric cancer, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Colorectal cancer, somatic;Nevus, epidermal, somatic;Breast cancer, somatic;Cowden syndrome 5;Hepatocellular carcinoma, somatic;Nonsmall cell lung cancer, somatic
PMS1	600258
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome 4	AR
POLD1	174761	Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	AD
POLE	174762	Colorectal cancer, susceptibility to, 12;IMAGE-I syndrome;FILS syndrome	AD, AR
POT1	606478	Melanoma, cutaneous malignant, susceptibility to, 10;Glioma susceptibility 9	AD
PRKAR1A	188830	Myxoma, intracardiac;Pigmented nodular adrenocortical disease, primary, 1;Carney complex, type 1;Acrodysostosis 1, with or without hormone resistance	AD
PRSS1	276000	Pancreatitis, hereditary	AD
PTCH1	601309	Basal cell carcinoma, somatic;Holoprosencephaly 7;Basal cell nevus syndrome	AD
PTCH2	603673	Basal cell carcinoma, somatic;Basal cell nevus syndrome;Medulloblastoma, somatic	AD
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
RAD50	604040	Nijmegen breakage syndrome-like disorder	AR
RAD51C	602774	Fanconi anemia, complementation group O;Breast-ovarian cancer, familial, susceptibility to, 3	AR
RAD51D	602954	Breast-ovarian cancer, familial, susceptibility to, 4
RB1	614041	Bladder cancer, somatic;Retinoblastoma, trilateral;Small cell cancer of the lung, somatic;Osteosarcoma, somatic;Retinoblastoma	AD, SM
RECQL	600537
REST	600571	Wilms tumor 6, susceptibility to;Fibromatosis, gingival, 5;?Deafness, AD 27	AD
RET	164761	Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital	AD
RNF43	612482	Sessile serrated polyposis cancer syndrome	AD
RPS20	603682
RUNX1	151385	Leukemia, acute myeloid;Platelet disorder, familial, with associated myeloid malignancy	AD, SM, AD
SAMD9L	611170	Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF2	613019	Paragangliomas 2	AD
SDHB	185470	Pheochromocytoma;MT complex II deficiency, nuclear type 4;Paragangliomas 4;Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor	AD, AR, AD, IC
SDHC	602413	Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor;Paragangliomas 3	AD, IC, AD
SDHD	602690	MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma	AR, AD
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
SMARCA2	600014	Blepharophimosis-impaired intellectual development syndrome;Nicolaides-Baraitser syndrome	AD
SMARCA4	603254	Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2	AD
SMARCB1	601607	Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1;Schwannomatosis-1, susceptibility to;Rhabdoid tumors, somatic	AD
SMARCE1	603111	Coffin-Siris syndrome 5;Meningioma, familial, susceptibility to	AD
STK11	602216	Peutz-Jeghers syndrome;Melanoma, malignant, somatic;Testicular tumor, somatic;Pancreatic cancer, somatic	AD
SUFU	607035	Meningioma, familial, susceptibility to;Basal cell nevus syndrome;Medulloblastoma, desmoplastic;Joubert syndrome 32	AD, AD, AR, SM, AR
TERT	187270	Melanoma, cutaneous malignant, 9;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, AD 2;Leukemia, acute myeloid;Dyskeratosis congenita, autosomal recessive 4	AD, AD, AR, AD, SM
TGFBR2	190182	Colorectal cancer, hereditary nonpolyposis, type 6;Loeys-Dietz syndrome 2;Esophageal cancer, somatic	AD
TMEM127	613403	Pheochromocytoma, susceptibility to	AD
TP53	191170	Hepatocellular carcinoma, somatic;Bone marrow failure syndrome 5;Basal cell carcinoma 7;Nasopharyngeal carcinoma, somatic;Choroid plexus papilloma;Glioma susceptibility 1;Pancreatic cancer, somatic;Breast cancer, somatic;Li-Fraumeni syndrome;Adrenocortical carcinoma, pediatric;Osteosarcoma;Colorectal cancer	AD, AD, SM, SM
TRIP13	604507	Oocyte maturation defect 9;Mosaic variegated aneuploidy syndrome 3	AR
TSC1	605284	Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2	AD
VHL	608537	Pheochromocytoma;von Hippel-Lindau syndrome;Renal cell carcinoma, somatic;Erythrocytosis, familial, 2	AD, AR
WRN	604611	Werner syndrome	AR
WT1	607102	Denys-Drash syndrome;Mesothelioma, somatic;Frasier syndrome;Meacham syndrome;Wilms tumor, type 1;Nephrotic syndrome, type 4	AD, SM, AD
XRCC2	600375	Spermatogenic failure;?Fanconi anemia, complementation group U;?Premature ovarian failure 17	AR
XRCC3	600675	Breast cancer, susceptibility to;Melanoma, cutaneous malignant, 6	AD, SM

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

Available Downloads

Hereditary Cancer Panels – Product Sheet

Genetic testing for an improved prognosis

Download EN

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

Order now

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABRAXAS1	611143
ACVRL1	601284	Telangiectasia, hereditary hemorrhagic, type 2	AD
AKT1	164730	Breast cancer, somatic;Cowden syndrome 6;Colorectal cancer, somatic;Ovarian cancer, somatic;Proteus syndrome, somatic
APC	611731	Colorectal cancer, somatic;Gastric cancer, somatic;Gastric adenocarcinoma and proximal polyposis of the stomach;Desmoid disease, hereditary;Adenomatous polyposis coli;Gardner syndrome;Brain tumor-polyposis syndrome 2;Hepatoblastoma, somatic	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
AXIN2	604025	Oligodontia-colorectal cancer syndrome;Colorectal cancer, somatic	AD
BAP1	603089	Tumor predisposition syndrome;Kury-Isidor syndrome	AD
BARD1	601593	Breast cancer, susceptibility to	AD, SM
BLM	604610	Bloom syndrome	AR
BMPR1A	601299	Polyposis, juvenile intestinal;Juvenile polyposis syndrome, infantile form;Polyposis syndrome, hereditary mixed, 2	AD
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
BRIP1	605882	Fanconi anemia, complementation group J;Breast cancer, early-onset, susceptibility to	AD, SM
BUB1B	602860	[Premature chromatid separation trait];Colorectal cancer, somatic;Mosaic variegated aneuploidy syndrome 1	AD, AR
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8;Hypocalcemia, AD, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;Hyperparathyroidism, neonatal;Hypocalcemia, AD	AD, AD, AR
CDC73	607393	Hyperparathyroidism, familial primary;Parathyroid carcinoma;Parathyroid adenoma with cystic changes;Hyperparathyroidism-jaw tumor syndrome	AD
CDH1	192090	Prostate cancer, susceptibility to;Breast cancer, lobular;Blepharocheilodontic syndrome 1;Ovarian cancer, somatic;Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate;Endometrial carcinoma, somatic	AD, SM, AD
CDK4	123829	Melanoma, cutaneous malignant, 3	AD
CDKN1B	600778	Multiple endocrine neoplasia, type IV	AD
CDKN1C	600856	IMAGE syndrome;Beckwith-Wiedemann syndrome	AD
CDKN2A	600160	Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, 2	AD
CEBPA	116897	?Leukemia, acute myeloid;Leukemia, acute myeloid, somatic	AD, SM
CHEK2	604373	Prostate cancer, familial, susceptibility to;Colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Osteosarcoma, somatic;Li-Fraumeni syndrome	AD, SM
CTNNA1	116805	Macular dystrophy, patterned, 2	AD
DDX41	608170	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	AD
DICER1	606241	Pleuropulmonary blastoma;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;GLOW syndrome, somatic mosaic;Rhabdomyosarcoma, embryonal, 2	AD
DIS3L2	614184	Perlman syndrome	AR
EGFR	131550	Nonsmall cell lung cancer, susceptibility to;?Inflammatory skin and bowel disease, neonatal, 2;Adenocarcinoma of lung, response to tyrosine kinase inhibitor in;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in	AD, SM, AR
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital	AR
ETV6	600618	Leukemia, acute myeloid, somatic;Thrombocytopenia 5	AD
EXT1	608177	Chondrosarcoma;Exostoses, multiple, type 1	SM, AD
EXT2	608210	Exostoses, multiple, type 2;Seizures, scoliosis, and macrocephaly syndrome	AD, AR
FANCC	613899	Fanconi anemia, complementation group C	AR
FH	136850	Fumarase deficiency;Leiomyomatosis and renal cell cancer	AR, AD
FLCN	607273	Birt-Hogg-Dube syndrome;Pneumothorax, primary spontaneous;Renal carcinoma, chromophobe, somatic;Colorectal cancer, somatic	AD
GALNT12	610290	Colorectal cancer, susceptibility to, 1
GATA2	137295	Myelodysplastic syndrome, susceptibility to;Leukemia, acute myeloid, susceptibility to;Emberger syndrome;Immunodeficiency 21	AD, SM, AD
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1;Wilms tumor, somatic	XLR
GREM1	603054
HNF1A	142410	Diabetes mellitus, insulin-dependent;Diabetes mellitus, insulin-dependent, 20;MODY, type III;Diabetes mellitus, noninsulin-dependent, 2;Hepatic adenoma, somatic;Renal cell carcinoma	AR, AD
HNF1B	189907	Renal cysts and diabetes syndrome;Diabetes mellitus, noninsulin-dependent;Renal cell carcinoma	AD
HOXB13	604607	Prostate cancer, hereditary, 9
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
KIF1B	605995	?Charcot-Marie-Tooth disease, type 2A1;Pheochromocytoma;Neuroblastoma, susceptibility to, 1	AD, AD, SM
KIT	164920	Gastrointestinal stromal tumor, familial;Germ cell tumors, somatic;Piebaldism;Leukemia, acute myeloid, somatic;Mastocytosis, systemic, somatic;Mastocytosis, cutaneous	AD, IC, AD
MAX	154950	Pheochromocytoma, susceptibility to	AD
MC1R	155555	[Skin/hair/eye pigmentation 2, blond hair/fair skin];[Skin/hair/eye pigmentation 2, red hair/fair skin];Melanoma, cutaneous malignant, 5;UV-induced skin damage;[Analgesia from kappa-opioid receptor agonist, female-specific];Albinism, oculocutaneous, type II, modifier of	AR
MEN1	613733	Multiple endocrine neoplasia 1	AD
MET	164860	Hepatocellular carcinoma, childhood type, somatic;?Deafness, autosomal recessive 97;Osteofibrous dysplasia, susceptibility to;Renal cell carcinoma, papillary, 1, familial and somatic	AR, AD
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome	AD, AR
MLH1	120436	Mismatch repair cancer syndrome 1;Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 2	AR, AD
MLH3	604395	Colorectal cancer, somatic;Endometrial cancer, susceptibility to;Colorectal cancer, hereditary nonpolyposis, type 7	AD, SM
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MSH2	609309	Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 1;Mismatch repair cancer syndrome 2	AD, AR
MSH3	600887	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4	AR
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5;Endometrial cancer, familial;Mismatch repair cancer syndrome 3	AD, AD, SM, AR
MUTYH	604933	Adenomas, multiple colorectal;Gastric cancer, somatic	AR
NBN	602667	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome	AR
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NF2	607379	Neurofibromatosis, type 2;Schwannomatosis, somatic;Meningioma, NF2-related, somatic	AD
NTHL1	602656	Familial adenomatous polyposis 3	AR
PALB2	610355	Pancreatic cancer, susceptibility to, 3;Fanconi anemia, complementation group N;Breast cancer, susceptibility to	AD, SM
PDGFRA	173490	Hypereosinophilic syndrome, idiopathic, resistant to imatinib;Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	IC, SM
PHOX2B	603851	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease;Neuroblastoma, susceptibility to, 2;Neuroblastoma with Hirschsprung disease	AD
PIK3CA	171834	Keratosis, seborrheic, somatic;Ovarian cancer, somatic;CLAPO syndrome, somatic;Macrodactyly, somatic;CLOVE syndrome, somatic;Gastric cancer, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Colorectal cancer, somatic;Nevus, epidermal, somatic;Breast cancer, somatic;Cowden syndrome 5;Hepatocellular carcinoma, somatic;Nonsmall cell lung cancer, somatic
PMS1	600258
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome 4	AR
POLD1	174761	Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	AD
POLE	174762	Colorectal cancer, susceptibility to, 12;IMAGE-I syndrome;FILS syndrome	AD, AR
POT1	606478	Melanoma, cutaneous malignant, susceptibility to, 10;Glioma susceptibility 9	AD
PRKAR1A	188830	Myxoma, intracardiac;Pigmented nodular adrenocortical disease, primary, 1;Carney complex, type 1;Acrodysostosis 1, with or without hormone resistance	AD
PRSS1	276000	Pancreatitis, hereditary	AD
PTCH1	601309	Basal cell carcinoma, somatic;Holoprosencephaly 7;Basal cell nevus syndrome	AD
PTCH2	603673	Basal cell carcinoma, somatic;Basal cell nevus syndrome;Medulloblastoma, somatic	AD
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
RAD50	604040	Nijmegen breakage syndrome-like disorder	AR
RAD51C	602774	Fanconi anemia, complementation group O;Breast-ovarian cancer, familial, susceptibility to, 3	AR
RAD51D	602954	Breast-ovarian cancer, familial, susceptibility to, 4
RB1	614041	Bladder cancer, somatic;Retinoblastoma, trilateral;Small cell cancer of the lung, somatic;Osteosarcoma, somatic;Retinoblastoma	AD, SM
RECQL	600537
REST	600571	Wilms tumor 6, susceptibility to;Fibromatosis, gingival, 5;?Deafness, AD 27	AD
RET	164761	Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital	AD
RNF43	612482	Sessile serrated polyposis cancer syndrome	AD
RPS20	603682
RUNX1	151385	Leukemia, acute myeloid;Platelet disorder, familial, with associated myeloid malignancy	AD, SM, AD
SAMD9L	611170	Ataxia-pancytopenia syndrome;Monosomy 7 myelodysplasia and leukemia syndrome 1	AD
SDHA	600857	Neurodegeneration with ataxia and late-onset optic atrophy;Cardiomyopathy, dilated, 1GG;Leigh syndrome;MT respiratory chain complex II deficiency;Paragangliomas 5	AD, AR, AR, MT
SDHAF2	613019	Paragangliomas 2	AD
SDHB	185470	Pheochromocytoma;MT complex II deficiency, nuclear type 4;Paragangliomas 4;Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor	AD, AR, AD, IC
SDHC	602413	Paraganglioma and gastric stromal sarcoma;Gastrointestinal stromal tumor;Paragangliomas 3	AD, IC, AD
SDHD	602690	MT complex II deficiency;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness;MT complex II deficiency, nuclear type 3;Pheochromocytoma	AR, AD
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
SMARCA2	600014	Blepharophimosis-impaired intellectual development syndrome;Nicolaides-Baraitser syndrome	AD
SMARCA4	603254	Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2	AD
SMARCB1	601607	Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1;Schwannomatosis-1, susceptibility to;Rhabdoid tumors, somatic	AD
SMARCE1	603111	Coffin-Siris syndrome 5;Meningioma, familial, susceptibility to	AD
STK11	602216	Peutz-Jeghers syndrome;Melanoma, malignant, somatic;Testicular tumor, somatic;Pancreatic cancer, somatic	AD
SUFU	607035	Meningioma, familial, susceptibility to;Basal cell nevus syndrome;Medulloblastoma, desmoplastic;Joubert syndrome 32	AD, AD, AR, SM, AR
TERT	187270	Melanoma, cutaneous malignant, 9;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, AD 2;Leukemia, acute myeloid;Dyskeratosis congenita, autosomal recessive 4	AD, AD, AR, AD, SM
TGFBR2	190182	Colorectal cancer, hereditary nonpolyposis, type 6;Loeys-Dietz syndrome 2;Esophageal cancer, somatic	AD
TMEM127	613403	Pheochromocytoma, susceptibility to	AD
TP53	191170	Hepatocellular carcinoma, somatic;Bone marrow failure syndrome 5;Basal cell carcinoma 7;Nasopharyngeal carcinoma, somatic;Choroid plexus papilloma;Glioma susceptibility 1;Pancreatic cancer, somatic;Breast cancer, somatic;Li-Fraumeni syndrome;Adrenocortical carcinoma, pediatric;Osteosarcoma;Colorectal cancer	AD, AD, SM, SM
TRIP13	604507	Oocyte maturation defect 9;Mosaic variegated aneuploidy syndrome 3	AR
TSC1	605284	Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2	AD
VHL	608537	Pheochromocytoma;von Hippel-Lindau syndrome;Renal cell carcinoma, somatic;Erythrocytosis, familial, 2	AD, AR
WRN	604611	Werner syndrome	AR
WT1	607102	Denys-Drash syndrome;Mesothelioma, somatic;Frasier syndrome;Meacham syndrome;Wilms tumor, type 1;Nephrotic syndrome, type 4	AD, SM, AD
XRCC2	600375	Spermatogenic failure;?Fanconi anemia, complementation group U;?Premature ovarian failure 17	AR
XRCC3	600675	Breast cancer, susceptibility to;Melanoma, cutaneous malignant, 6	AD, SM

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

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Hereditary Cancer Panels – Product Sheet

Genetic testing for an improved prognosis

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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

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
APC	611731	Colorectal cancer, somatic;Gastric cancer, somatic;Gastric adenocarcinoma and proximal polyposis of the stomach;Desmoid disease, hereditary;Adenomatous polyposis coli;Gardner syndrome;Brain tumor-polyposis syndrome 2;Hepatoblastoma, somatic	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
AXIN2	604025	Oligodontia-colorectal cancer syndrome;Colorectal cancer, somatic	AD
BLM	604610	Bloom syndrome	AR
BMPR1A	601299	Polyposis, juvenile intestinal;Juvenile polyposis syndrome, infantile form;Polyposis syndrome, hereditary mixed, 2	AD
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
CDH1	192090	Prostate cancer, susceptibility to;Breast cancer, lobular;Blepharocheilodontic syndrome 1;Ovarian cancer, somatic;Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate;Endometrial carcinoma, somatic	AD, SM, AD
CDKN2A	600160	Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, 2	AD
CHEK2	604373	Prostate cancer, familial, susceptibility to;Colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Osteosarcoma, somatic;Li-Fraumeni syndrome	AD, SM
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital	AR
FLCN	607273	Birt-Hogg-Dube syndrome;Pneumothorax, primary spontaneous;Renal carcinoma, chromophobe, somatic;Colorectal cancer, somatic	AD
GALNT12	610290	Colorectal cancer, susceptibility to, 1
MLH1	120436	Mismatch repair cancer syndrome 1;Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 2	AR, AD
MLH3	604395	Colorectal cancer, somatic;Endometrial cancer, susceptibility to;Colorectal cancer, hereditary nonpolyposis, type 7	AD, SM
MSH2	609309	Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 1;Mismatch repair cancer syndrome 2	AD, AR
MSH3	600887	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4	AR
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5;Endometrial cancer, familial;Mismatch repair cancer syndrome 3	AD, AD, SM, AR
MUTYH	604933	Adenomas, multiple colorectal;Gastric cancer, somatic	AR
NBN	602667	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome	AR
NTHL1	602656	Familial adenomatous polyposis 3	AR
PALB2	610355	Pancreatic cancer, susceptibility to, 3;Fanconi anemia, complementation group N;Breast cancer, susceptibility to	AD, SM
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome 4	AR
POLD1	174761	Colorectal cancer, susceptibility to, 10;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	AD
POLE	174762	Colorectal cancer, susceptibility to, 12;IMAGE-I syndrome;FILS syndrome	AD, AR
PRSS1	276000	Pancreatitis, hereditary	AD
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
RNF43	612482	Sessile serrated polyposis cancer syndrome	AD
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
STK11	602216	Peutz-Jeghers syndrome;Melanoma, malignant, somatic;Testicular tumor, somatic;Pancreatic cancer, somatic	AD
TGFBR2	190182	Colorectal cancer, hereditary nonpolyposis, type 6;Loeys-Dietz syndrome 2;Esophageal cancer, somatic	AD
TP53	191170	Hepatocellular carcinoma, somatic;Bone marrow failure syndrome 5;Basal cell carcinoma 7;Nasopharyngeal carcinoma, somatic;Choroid plexus papilloma;Glioma susceptibility 1;Pancreatic cancer, somatic;Breast cancer, somatic;Li-Fraumeni syndrome;Adrenocortical carcinoma, pediatric;Osteosarcoma;Colorectal cancer	AD, AD, SM, SM
VHL	608537	Pheochromocytoma;von Hippel-Lindau syndrome;Renal cell carcinoma, somatic;Erythrocytosis, familial, 2	AD, AR

COMMON SYNDROMES AND DISORDERS COVERED

Colorectal cancer
Familial adenomatous polyposis
Gastric cancer
Hereditary nonpolyposis colorectal cancer
Pancreatic cancer

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Hereditary Cancer Panels – Product Sheet

Genetic testing for an improved prognosis

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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

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ASXL1	612990	Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
CBL	165360	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;?Juvenile myelomonocytic leukemia	AD, AD, SM
CDKN2A	600160	Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, 2	AD
CEBPA	116897	?Leukemia, acute myeloid;Leukemia, acute myeloid, somatic	AD, SM
CREBBP	600140	Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome 1	AD
DNMT3A	602769	Tatton-Brown-Rahman syndrome;Heyn-Sproul-Jackson syndrome;Acute myeloid leukemia, somatic	AD
ETV6	600618	Leukemia, acute myeloid, somatic;Thrombocytopenia 5	AD
EZH2	601573	Weaver syndrome	AD
FLT3	136351	Leukemia, acute lymphoblastic, somatic;Leukemia, acute myeloid, reduced survival in, somatic;Leukemia, acute myeloid, somatic
GATA2	137295	Myelodysplastic syndrome, susceptibility to;Leukemia, acute myeloid, susceptibility to;Emberger syndrome;Immunodeficiency 21	AD, SM, AD
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
IDH1	147700	Glioma, susceptibility to, somatic
IDH2	147650	D-2-hydroxyglutaric aciduria 2
JAK2	147796	Erythrocytosis, somatic;Polycythemia vera, somatic;Leukemia, acute myeloid, somatic;Thrombocythemia 3;Budd-Chiari syndrome, somatic;Myelofibrosis, somatic	AD, SM
KIT	164920	Gastrointestinal stromal tumor, familial;Germ cell tumors, somatic;Piebaldism;Leukemia, acute myeloid, somatic;Mastocytosis, systemic, somatic;Mastocytosis, cutaneous	AD, IC, AD
KRAS	190070	Arteriovenous malformation of the brain, somatic;Gastric cancer, somatic;Oculoectodermal syndrome, somatic;RAS-associated autoimmune leukoproliferative disorder;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;Bladder cancer, somatic;Leukemia, acute myeloid, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Breast cancer, somatic;Noonan syndrome 3	AD
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NOTCH1	190198	Adams-Oliver syndrome 5;Aortic valve disease 1	AD
NPM1	164040	Leukemia, acute myeloid, somatic
NRAS	164790	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Colorectal cancer, somatic;Neurocutaneous melanosis, somatic;?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic;Noonan syndrome 6;Melanocytic nevus syndrome, congenital, somatic;Thyroid carcinoma, follicular, somatic;Epidermal nevus, somatic	AD
PDGFRB	173410	Myeloproliferative disorder with eosinophilia;Myofibromatosis, infantile, 1;Premature aging syndrome, Penttinen type;Basal ganglia calcification, idiopathic, 4;Kosaki overgrowth syndrome	AD
PHF6	300414	Borjeson-Forssman-Lehmann syndrome	XLR
PTPN11	176876	Leukemia, juvenile myelomonocytic, somatic;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1	AD
RAD21	606462	Cornelia de Lange syndrome 4;?Mungan syndrome	AD, AR
RUNX1	151385	Leukemia, acute myeloid;Platelet disorder, familial, with associated myeloid malignancy	AD, SM, AD
SF3B1	605590	Myelodysplastic syndrome, somatic
SMC1A	300040	Developmental and epileptic encephalopathy 85, with or without midline brain defects;Cornelia de Lange syndrome 2	XLD
SMC3	606062	Cornelia de Lange syndrome 3	AD
SRSF2	600813
STAG2	300826	Mullegama-Klein-Martinez syndrome;Holoprosencephaly 13, XL	XL, XLD, XLR
TET2	612839	Myelodysplastic syndrome, somatic;Immunodeficiency 75	AR
TP53	191170	Hepatocellular carcinoma, somatic;Bone marrow failure syndrome 5;Basal cell carcinoma 7;Nasopharyngeal carcinoma, somatic;Choroid plexus papilloma;Glioma susceptibility 1;Pancreatic cancer, somatic;Breast cancer, somatic;Li-Fraumeni syndrome;Adrenocortical carcinoma, pediatric;Osteosarcoma;Colorectal cancer	AD, AD, SM, SM
U2AF1	191317
WT1	607102	Denys-Drash syndrome;Mesothelioma, somatic;Frasier syndrome;Meacham syndrome;Wilms tumor, type 1;Nephrotic syndrome, type 4	AD, SM, AD

COMMON SYNDROMES AND DISORDERS COVERED

Acute myeloid leukemia
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
Myeloid tumor
Myeloproliferative neoplasms

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CENTOGENE Myeloid Productsheet English PDF

Myeloid Tumor Panel – Product Sheet

The targeted approach to detecting myeloid malignancies

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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

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABL1	189980	Congenital heart defects and skeletal malformations syndrome;Leukemia, Philadelphia chromosome-positive, resistant to imatinib	AD, SM
AKT1	164730	Breast cancer, somatic;Cowden syndrome 6;Colorectal cancer, somatic;Ovarian cancer, somatic;Proteus syndrome, somatic
AKT2	164731	Diabetes mellitus, type II;Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
AKT3	611223	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	AD
ALK	105590	Neuroblastoma, susceptibility to, 3
APC	611731	Colorectal cancer, somatic;Gastric cancer, somatic;Gastric adenocarcinoma and proximal polyposis of the stomach;Desmoid disease, hereditary;Adenomatous polyposis coli;Gardner syndrome;Brain tumor-polyposis syndrome 2;Hepatoblastoma, somatic	AD
AR	313700	Androgen insensitivity;Androgen insensitivity, partial, with or without breast cancer;Prostate cancer, susceptibility to;Spinal and bulbar muscular atrophy of Kennedy;Hypospadias 1, XL	XLR, AD, SM
ARAF	311010
ARID1A	603024	Coffin-Siris syndrome 2	AD
ASXL1	612990	Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic	AD
ATM	607585	Breast cancer, susceptibility to;Ataxia-telangiectasia	AD, SM, AR
ATR	601215	?Cutaneous telangiectasia and cancer syndrome, familial;Seckel syndrome 1	AD, AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked;Alpha-thalassemia/mental retardation syndrome;Alpha-thalassemia myelodysplasia syndrome, somatic	XLR, XLD
AXL	109135
BAP1	603089	Tumor predisposition syndrome;Kury-Isidor syndrome	AD
BRAF	164757	Cardiofaciocutaneous syndrome;Adenocarcinoma of lung, somatic;Noonan syndrome 7;Colorectal cancer, somatic;Melanoma, malignant, somatic,;LEOPARD syndrome 3	AD
BRCA1	113705	Breast-ovarian cancer, familial, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S	AD, MF, AR
BRCA2	600185	Prostate cancer;Breast-ovarian cancer, familial, 2;Glioblastoma 3;Wilms tumor;Pancreatic cancer 2;Breast cancer, male, susceptibility to;Fanconi anemia, complementation group D1;Medulloblastoma	AD, SM, AD, AR, AD, AR, SM
BTK	300300	Agammaglobulinemia, X-linked 1;Isolated growth hormone deficiency, type III, with agammaglobulinemia	XLR
CBL	165360	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;?Juvenile myelomonocytic leukemia	AD, AD, SM
CCND1	168461	Colorectal cancer, susceptibility to;von Hippel-Lindau syndrome, modifier of;Multiple myeloma, susceptibility to	AD, SM, AD, SM
CDH1	192090	Prostate cancer, susceptibility to;Breast cancer, lobular;Blepharocheilodontic syndrome 1;Ovarian cancer, somatic;Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate;Endometrial carcinoma, somatic	AD, SM, AD
CDK12	615514
CDK4	123829	Melanoma, cutaneous malignant, 3	AD
CDK6	603368	?Microcephaly 12, primary, AR	AR
CDKN1B	600778	Multiple endocrine neoplasia, type IV	AD
CDKN2A	600160	Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, 2	AD
CDKN2B	600431
CHEK1	603078
CHEK2	604373	Prostate cancer, familial, susceptibility to;Colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Osteosarcoma, somatic;Li-Fraumeni syndrome	AD, SM
CREBBP	600140	Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome 1	AD
CSF1R	164770	Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids	AR, AD
CTNNB1	116806	Ovarian cancer, somatic;Colorectal cancer, somatic;Pilomatricoma, somatic;Neurodevelopmental disorder with spastic diplegia and visual defects;Exudative vitreoretinopathy 7;Medulloblastoma, somatic;Hepatocellular carcinoma, somatic	AD
DDR2	191311	Spondylometaepiphyseal dysplasia, short limb-hand type;Warburg-Cinotti syndrome	AR, AD
EGFR	131550	Nonsmall cell lung cancer, susceptibility to;?Inflammatory skin and bowel disease, neonatal, 2;Adenocarcinoma of lung, response to tyrosine kinase inhibitor in;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in	AD, SM, AR
ERBB2	164870	?Visceral neuropathy, familial, 2, AR;Ovarian cancer, somatic;Adenocarcinoma of lung, somatic;Glioblastoma, somatic;Gastric cancer, somatic	AR
ERBB3	190151	Visceral neuropathy, familial, 1, AR;?Lethal congenital contractural syndrome 2;?Erythroleukemia, familial, susceptibility to	AR, AD
ERBB4	600543	Amyotrophic lateral sclerosis 19	AD
ERCC2	126340	?Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive	AR
ESR1	133430	Breast cancer, somatic;Migraine, susceptibility to;Myocardial infarction, susceptibility to;Estrogen resistance	AD, AR
EZH2	601573	Weaver syndrome	AD
FANCA	607139	Fanconi anemia, complementation group A	AR
FANCD2	613984	Fanconi anemia, complementation group D2	AR
FANCI	611360	Fanconi anemia, complementation group I	AR
FBXW7	606278
FGFR1	136350	Osteoglophonic dysplasia;Trigonocephaly 1;Pfeiffer syndrome;Encephalocraniocutaneous lipomatosis, somatic mosaic;Hypogonadotropic hypogonadism 2 with or without anosmia;Jackson-Weiss syndrome;Hartsfield syndrome	AD
FGFR2	176943	Crouzon syndrome;Saethre-Chotzen syndrome;Craniofacial-skeletal-dermatologic dysplasia;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Gastric cancer, somatic;LADD syndrome;Beare-Stevenson cutis gyrata syndrome;Scaphocephaly, maxillary retrusion, and mental retardation;Apert syndrome;Bent bone dysplasia syndrome;Pfeiffer syndrome;Jackson-Weiss syndrome	AD
FGFR3	134934	Achondroplasia;CATSHL syndrome;Thanatophoric dysplasia, type I;Bladder cancer, somatic;Hypochondroplasia;SADDAN;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans;Cervical cancer, somatic;Nevus, epidermal, somatic;Thanatophoric dysplasia, type II;Spermatocytic seminoma, somatic;Muenke syndrome;LADD syndrome	AD, AD, AR
FGFR4	134935
FLT3	136351	Leukemia, acute lymphoblastic, somatic;Leukemia, acute myeloid, reduced survival in, somatic;Leukemia, acute myeloid, somatic
FOXL2	605597	Blepharophimosis, epicanthus inversus, and ptosis, type 1;Blepharophimosis, epicanthus inversus, and ptosis, type 2;Premature ovarian failure 3	AD, AR, AD
GATA2	137295	Myelodysplastic syndrome, susceptibility to;Leukemia, acute myeloid, susceptibility to;Emberger syndrome;Immunodeficiency 21	AD, SM, AD
GNA11	139313	Hypocalciuric hypercalcemia, type II;Hypocalcemia, AD 2	AD
GNAQ	600998	Capillary malformations, congenital, 1, somatic, mosaic;Sturge-Weber syndrome, somatic, mosaic
GNAS	139320	Pseudohypoparathyroidism Ic;Osseous heteroplasia, progressive;Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism Ia;Pseudohypoparathyroidism Ib;Pituitary adenoma 3, multiple types, somatic;ACTH-independent macronodular adrenal hyperplasia;McCune-Albright syndrome, somatic, mosaic	AD, SM
H3-3A	601128	Bryant-Li-Bhoj neurodevelopmental syndrome 1	AD
H3C2	602819
HNF1A	142410	Diabetes mellitus, insulin-dependent;Diabetes mellitus, insulin-dependent, 20;MODY, type III;Diabetes mellitus, noninsulin-dependent, 2;Hepatic adenoma, somatic;Renal cell carcinoma	AR, AD
HRAS	190020	Thyroid carcinoma, follicular, somatic;Spitz nevus or nevus spilus, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Bladder cancer, somatic;Costello syndrome;Nevus sebaceous or woolly hair nevus, somatic;Congenital myopathy with excess of muscle spindles	AD
IDH1	147700	Glioma, susceptibility to, somatic
IDH2	147650	D-2-hydroxyglutaric aciduria 2
JAK1	147795	Autoinflammation, immune dysregulation, and eosinophilia	AD
JAK2	147796	Erythrocytosis, somatic;Polycythemia vera, somatic;Leukemia, acute myeloid, somatic;Thrombocythemia 3;Budd-Chiari syndrome, somatic;Myelofibrosis, somatic	AD, SM
JAK3	600173	SCID, autosomal recessive, T-negative/B-positive type	AR
KDR	191306	Hemangioma, capillary infantile, susceptibility to;Hemangioma, capillary infantile, somatic	AD
KEAP1	606016
KIT	164920	Gastrointestinal stromal tumor, familial;Germ cell tumors, somatic;Piebaldism;Leukemia, acute myeloid, somatic;Mastocytosis, systemic, somatic;Mastocytosis, cutaneous	AD, IC, AD
KMT2A	159555	Wiedemann-Steiner syndrome	AD
KMT2C	606833	Kleefstra syndrome 2	AD
KMT2D	602113	Kabuki syndrome 1	AD
KNSTRN	614718	?Roifman-Chitayat syndrome, digenic	DR
KRAS	190070	Arteriovenous malformation of the brain, somatic;Gastric cancer, somatic;Oculoectodermal syndrome, somatic;RAS-associated autoimmune leukoproliferative disorder;Pancreatic carcinoma, somatic;Lung cancer, somatic;Cardiofaciocutaneous syndrome 2;Bladder cancer, somatic;Leukemia, acute myeloid, somatic;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Breast cancer, somatic;Noonan syndrome 3	AD
MAGOH	602603
MAP2K1	176872	Cardiofaciocutaneous syndrome 3;Melorheostosis, isolated, somatic mosaic	AD
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MAP2K4	601335
MAPK1	176948	Noonan syndrome 13	AD
MAX	154950	Pheochromocytoma, susceptibility to	AD
MDM4	602704	?Bone marrow failure syndrome 6	AD
MED12	300188	Opitz-Kaveggia syndrome;Lujan-Fryns syndrome;Ohdo syndrome, X-linked;Hardikar syndrome	XLR, XLD
MEN1	613733	Multiple endocrine neoplasia 1	AD
MET	164860	Hepatocellular carcinoma, childhood type, somatic;?Deafness, autosomal recessive 97;Osteofibrous dysplasia, susceptibility to;Renal cell carcinoma, papillary, 1, familial and somatic	AR, AD
MLH1	120436	Mismatch repair cancer syndrome 1;Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 2	AR, AD
MPL	159530	Myelofibrosis with myeloid metaplasia, somatic;Thrombocytopenia, congenital amegakaryocytic;Thrombocythemia 2	AR, AD, SM
MRE11	600814	Ataxia-telangiectasia-like disorder 1	AR
MSH2	609309	Muir-Torre syndrome;Colorectal cancer, hereditary nonpolyposis, type 1;Mismatch repair cancer syndrome 2	AD, AR
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5;Endometrial cancer, familial;Mismatch repair cancer syndrome 3	AD, AD, SM, AR
MTOR	601231	Focal cortical dysplasia, type II, somatic;Smith-Kingsmore syndrome	AD
MYC	190080	Burkitt lymphoma, somatic
MYCN	164840	Feingold syndrome 1	AD
MYD88	602170	Macroglobulinemia, Waldenstrom, somatic;Immunodeficiency 68	AR
NBN	602667	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome	AR
NF1	613113	Watson syndrome;Leukemia, juvenile myelomonocytic;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome	AD, AD, SM
NF2	607379	Neurofibromatosis, type 2;Schwannomatosis, somatic;Meningioma, NF2-related, somatic	AD
NFE2L2	600492	Immunodeficiency, developmental delay, and hypohomocysteinemia	AD
NOTCH1	190198	Adams-Oliver syndrome 5;Aortic valve disease 1	AD
NOTCH2	600275	Alagille syndrome 2;Hajdu-Cheney syndrome	AD
NOTCH3	600276	?Myofibromatosis, infantile 2;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;Lateral meningocele syndrome	AD
NRAS	164790	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Colorectal cancer, somatic;Neurocutaneous melanosis, somatic;?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic;Noonan syndrome 6;Melanocytic nevus syndrome, congenital, somatic;Thyroid carcinoma, follicular, somatic;Epidermal nevus, somatic	AD
NTRK1	191315	Insensitivity to pain, congenital, with anhidrosis	AR
NTRK2	600456	Developmental and epileptic encephalopathy 58;Obesity, hyperphagia, and developmental delay	AD
NTRK3	191316
PALB2	610355	Pancreatic cancer, susceptibility to, 3;Fanconi anemia, complementation group N;Breast cancer, susceptibility to	AD, SM
PDGFRA	173490	Hypereosinophilic syndrome, idiopathic, resistant to imatinib;Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	IC, SM
PDGFRB	173410	Myeloproliferative disorder with eosinophilia;Myofibromatosis, infantile, 1;Premature aging syndrome, Penttinen type;Basal ganglia calcification, idiopathic, 4;Kosaki overgrowth syndrome	AD
PIK3CA	171834	Keratosis, seborrheic, somatic;Ovarian cancer, somatic;CLAPO syndrome, somatic;Macrodactyly, somatic;CLOVE syndrome, somatic;Gastric cancer, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Colorectal cancer, somatic;Nevus, epidermal, somatic;Breast cancer, somatic;Cowden syndrome 5;Hepatocellular carcinoma, somatic;Nonsmall cell lung cancer, somatic
PIK3CB	602925
PIK3R1	171833	?Agammaglobulinemia 7, AR;Immunodeficiency 36;SHORT syndrome	AR, AD
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome 4	AR
POLE	174762	Colorectal cancer, susceptibility to, 12;IMAGE-I syndrome;FILS syndrome	AD, AR
PPP2R1A	605983	Mental retardation, AD 36	AD
PTCH1	601309	Basal cell carcinoma, somatic;Holoprosencephaly 7;Basal cell nevus syndrome	AD
PTEN	601728	Cowden syndrome 1;Lhermitte-Duclos syndrome;Macrocephaly/autism syndrome;Glioma susceptibility 2;Meningioma;Prostate cancer, somatic	AD
PTPN11	176876	Leukemia, juvenile myelomonocytic, somatic;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome 1	AD
RAC1	602048	Mental retardation, AD 48	AD
RAD50	604040	Nijmegen breakage syndrome-like disorder	AR
RAD51	179617	Breast cancer, susceptibility to;Mirror movements 2;Fanconi anemia, complementation group R	AD, SM, AD
RAD51B	602948
RAD51C	602774	Fanconi anemia, complementation group O;Breast-ovarian cancer, familial, susceptibility to, 3	AR
RAD51D	602954	Breast-ovarian cancer, familial, susceptibility to, 4
RAF1	164760	Noonan syndrome 5;LEOPARD syndrome 2;Cardiomyopathy, dilated, 1NN	AD
RB1	614041	Bladder cancer, somatic;Retinoblastoma, trilateral;Small cell cancer of the lung, somatic;Osteosarcoma, somatic;Retinoblastoma	AD, SM
RBM10	300080	TARP syndrome	XLR
RET	164761	Hirschsprung disease, susceptibility to, 1;Multiple endocrine neoplasia IIA;Medullary thyroid carcinoma;Pheochromocytoma;Multiple endocrine neoplasia IIB;Hirschsprung disease, protection against;Central hypoventilation syndrome, congenital	AD
RHEB	601293
RHOA	165390	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
RIT1	609591	Noonan syndrome 8	AD
RNF43	612482	Sessile serrated polyposis cancer syndrome	AD
ROS1	165020
SETD2	612778	Luscan-Lumish syndrome	AD
SF3B1	605590	Myelodysplastic syndrome, somatic
SLX4	613278	Fanconi anemia, complementation group P	AR
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Pancreatic cancer, somatic;Myhre syndrome;Polyposis, juvenile intestinal	AD
SMARCA4	603254	Coffin-Siris syndrome 4;Rhabdoid tumor predisposition syndrome 2	AD
SMARCB1	601607	Coffin-Siris syndrome 3;Rhabdoid tumor predisposition syndrome 1;Schwannomatosis-1, susceptibility to;Rhabdoid tumors, somatic	AD
SMO	601500	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic;Pallister-Hall-like syndrome	AR
SPOP	602650	Nabais Sa-de Vries syndrome, type 2;Nabais Sa-de Vries syndrome, type 1	AD
SRC	190090	Colon cancer, advanced, somatic;?Thrombocytopenia 6	AD
STAT3	102582	Hyper-IgE recurrent infection syndrome;Autoimmune disease, multisystem, infantile-onset, 1	AD
STK11	602216	Peutz-Jeghers syndrome;Melanoma, malignant, somatic;Testicular tumor, somatic;Pancreatic cancer, somatic	AD
TERT	187270	Melanoma, cutaneous malignant, 9;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, AD 2;Leukemia, acute myeloid;Dyskeratosis congenita, autosomal recessive 4	AD, AD, AR, AD, SM
TOP1	126420
TP53	191170	Hepatocellular carcinoma, somatic;Bone marrow failure syndrome 5;Basal cell carcinoma 7;Nasopharyngeal carcinoma, somatic;Choroid plexus papilloma;Glioma susceptibility 1;Pancreatic cancer, somatic;Breast cancer, somatic;Li-Fraumeni syndrome;Adrenocortical carcinoma, pediatric;Osteosarcoma;Colorectal cancer	AD, AD, SM, SM
TSC1	605284	Lymphangioleiomyomatosis;Focal cortical dysplasia, type II, somatic;Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic;Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2	AD
TSHR	603372	Hyperthyroidism, nonautoimmune;Hypothyroidism, congenital, nongoitrous, 1;Hyperthyroidism, familial gestational	AD, AR
U2AF1	191317
VHL	608537	Pheochromocytoma;von Hippel-Lindau syndrome;Renal cell carcinoma, somatic;Erythrocytosis, familial, 2	AD, AR
XPO1	602559

COMMON SYNDROMES AND DISORDERS COVERED

Adrenal cancer
Biliary tract cancer
Bone marrow cancer
Breast cancer
Colon cancer
Endometrial cancer
Esophageal cancer
Gastrointestinal stromal tumor
Glioma
Hepatic cancer
Lung cancer
Lymphoma cancer
Meningioma
Ovarian cancer
Pancreatic cancer
Prostate cancer
Renal cancer
Skin cancer
Testicular cancer
Thyroid cancer

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Hereditary Cancer Panels – Product Sheet

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Myeloid Tumor Panel – Product Sheet

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Solid Tumor Panel – Product Sheet

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.