Klinische FragestellungKrebs-Vorsorge, genetisch [privatärztliche Leistung]

NGS +

für Erwachsene

• Genetic test for cancer prevention
• Tumor panel
• Allelic: Blepharocheilodontic syndrome 1 (CDH1)
• Allelic: COMMAD syndrome (MITF)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: FILS [Facial dysmorphism, Immunodeficiency, Livedo, Short stature] syndrome (POLE)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
• Allelic: Fumarase deficiency (FH)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Hyperparathyroidism, familial primary (CDC73)
• Allelic: IMAGE-I syndrome (POLE)
• Allelic: Kury-Isidor syndrome (BAP1)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
• Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
• Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
• Allelic: Piebaldism (KIT)
• Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Seizures, scoliosis + macrocephaly syndrome (EXT2)
• Allelic: Tietz albinism-deafness syndrome (MITF)
• Allelic: Waardenburg syndrome, type 2A (MITF)
• Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
• Acrodysostosis 1, with/-out hormone resistance (PRKAR1A) 3
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Coffin-Siris syndrome 3 (SMARCB1)
• Allelic: Coffin-Siris syndrome 4 (SMARCA4)
• Allelic: Coffin-Siris syndrome 5 (SMARCE1)
• Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
• Allelic: Erythrocytosis, familial, 2 (VHL)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Premature ovarian failure 17 (XRCC2)
• Allelic: Spermatogenic failure 50 (XRCC2)
• Aplastic anemia (NBN)
• Ataxia-telangiectasia (ATM)
• Baller-Gerold syndrome (RECQL4)
• Basal cell carcinoma 7 (TP53)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (SUFU)
• Birt-Hogg-Dube syndrome (FLCN)
• Bloom syndrome (BLM)
• Brain tumor-polyposis syndrome 2 (APC)
• Breast cancer, early-onset, susceptibility to (BRIP1)
• Breast cancer, male, susceptibility to (BRCA2)
• Breast cancer, susceptibility to (PALB2)
• Breast cancer, susceptibility to (ATM)
• Breast cancer, susceptibility to (CHEK2)
• Breast cancer, susceptibility to (RAD51)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)
• Brooke-Spiegler syndrome (CYLD)
• Carcinoid tumor of lung (MEN1)
• Carney complex, type 1 (PRKAR1A)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Chondrosarcoma (EXT1)
• Choroid plexus papilloma (TP53)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Colorectal cancer, susceptibility to (CHEK2)
• Colorectal cancer, susceptibility to, 10 (POLD1)
• Colorectal cancer, susceptibility to, 12 (POLE)
• Costello syndrome (HRAS)
• Cowden syndrome 1 (PTEN)
• Cowden syndrome 6 (AKT1)
• Cowden syndrome 7 (SEC23B)
• Cylindromatosis, familial (CYLD)
• Denys-Drash syndrome (WT1)
• Diffuse gastric + lobular breast cancer syndrome with/-out cleft lip +/- palate (CDH1)
• Endometrial cancer, familial (MSH6)
• Exostoses, multiple, type 1 (EXT1)
• Exostoses, multiple, type 2 (EXT2)
• Familial adenomatous polyposis 3 (NTHL1)
• Familial adenomatous polyposis 4 (MSH3)
• Fanconi anemia, complementation group A-M (FANCA-FANCM)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group R (RAD51)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• Fanconi anemia, complementation group U (XRCC2)
• Frasier syndrome (WT1)
• Gardner syndrome (APC)
• Gastrointestinal stromal tumor (SDHB)
• Gastrointestinal stromal tumor (SDHC)
• Gastrointestinal stromal tumor, familial (KIT)
• Glioblastoma 3 (BRCA2)
• Glioma susceptibility 1 (TP53)
• Glioma susceptibility 2 (PTEN)
• Glioma susceptibility 9 (POT1)
• Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Hereditary mixed polyposis syndrome [panelapp] (GREM1)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Joubert syndrome 32 (SUFU)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• LIG4 syndrome (LIG4)
• Leiomyomatosis and renal cell cancer (FH)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, juvenile myelomonocytic (NF1)
• Lhermitte-Duclos disease (PTEN)
• Li-Fraumeni syndrome 2 (CHEK2)
• Lymphangioleiomyomatosis (TSC1)
• Mastocytosis, cutaneous (KIT)
• Meacham syndrome (WT1)
• Medullary thyroid carcinoma (RET)
• Medulloblastoma (BRCA2)
• Medulloblastoma, desmoplastic (SUFU)
• Melanoma + neural system tumor syndrome (CDKN2A)
• Melanoma, cutaneous malignant, 2 (CDKN2A)
• Melanoma, cutaneous malignant, 3 (CDK4)
• Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
• Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Melanoma-pancreatic cancer syndrome (CDKN2A)
• Meningioma (PTEN)
• Meningioma, familial, susceptibility to (SMARCE1)
• Meningioma, familial, susceptibility to (SUFU)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Muir-Torre syndrome (MLH1)
• Muir-Torre syndrome (MSH2)
• Multiple endocrine neoplasia (MEN1)
• Multiple endocrine neoplasia IIA (RET)
• Multiple endocrine neoplasia IIB (RET)
• Multiple endocrine neoplasia, type IV (CDKN1B)
• Multiple myeloma, resistance to (LIG4)
• Myxoma, intracardiac (PRKAR1A)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 2, 10 (LZTR1)
• Osteofibrous dysplasia, susceptibility to (MET)
• Osteosarcoma (TP53)
• Pancreatic cancer 2 (BRCA2)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Pancreatitis, hereditary (PRSS1)
• Paraganglioma + gastric stromal sarcoma (SDHB)
• Paraganglioma + gastric stromal sarcoma (SDHC)
• Paraganglioma and gastric stromal sarcoma (SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Parathyroid adenoma with cystic changes (CDC73)
• Parathyroid carcinoma (CDC73)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma (RET)
• Pheochromocytoma (SDHB)
• Pheochromocytoma (SDHD)
• Pheochromocytoma (VHL)
• Pheochromocytoma, susceptibility to (MAX)
• Pheochromocytoma, susceptibility to (TMEM127)
• Pituitary adenoma 1, multiple types (AIP)
• Pituitary adenoma predisposition (AIP)
• Pleuropulmonary blastoma (DICER1)
• Polyposis syndrome, hereditary mixed, 2(BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Polyposis, juvenile intestinal (BMPR1A)
• Prostate cancer (BRCA2)
• Prostate cancer, familial, susceptibility to (CHEK2)
• Prostate cancer, susceptibility to (CDH1)
• RAPADILINO syndrome (RECQL4)
• Renal cell carcinoma, papillary (PRCC)
• Retinoblastoma (RB1)
• Retinoblastoma, trilateral (RB1)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Schwannomatosis-1, susceptibility to (SMARCB1)
• Schwannomatosis-2, susceptibility to (LZTR1)
• Trichoepithelioma, multiple familial, 1 (CYLD)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trichothiodystrophy 2, photosensitive (ERC3)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tumor predisposition syndrome (BAP1)
• Watson syndrome (NF1)
• Werner syndrome (WRN)
• Wilms tumor (BRCA2)
• Wilms tumor, type 1 (WT1)
• XFE progeroid syndrome (ERCC4)
• Xeroderma pigmentosum, group A (XPA)
• Xeroderma pigmentosum, group B (ERC3)
• Xeroderma pigmentosum, group C (XPC)
• Xeroderma pigmentosum, group D (ERCC2)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
• Xeroderma pigmentosum, group F (ERCC4)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
• Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
• Xeroderma pigmentosum, variant type (POLH)
• von Hippel-Lindau syndrome (VHL)