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ErkrankungKrebs-Vorsorge, genetisch [privatärztliche Leistung]

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit >100 Genen zur umfassenden Untersuchung von den allermeisten bekannten genetisch bedingten Tumorentitäten zur Vorsorge

ID
KP6555
Anzahl Gene
109 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
241,1 kb (Core-/Basis-Gene)
273,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AIP993AD und/oder Sus
APC8532AD und/oder Sus
ATM9171AD und/oder AR und/oder SMu und/oder Sus
BAP12190AD und/oder SMu und/oder Sus
BLM4254AR und/oder Sus
BMPR1A1599AD und/oder Sus
BRCA15592AD und/oder AR und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
CDC731596AD und/oder Sus
CDH12649AD und/oder SMu und/oder Sus
CDK4912AD und/oder SMu
CDKN1B597AD und/oder Sus
CDKN2A471AD und/oder SMu und/oder Sus
CHEK21632AD und/oder SMu
CYLD2871AD
DDB21284AR
DICER15769AD und/oder Sus
EPCAM945AR und/oder SMu und/oder Sus
ERCC1972AR
ERCC22283AR
ERCC32349AR
ERCC42751AR
ERCC53561AR
EXT12241AD und/oder Ass
EXT22157AD und/oder AR
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
FANCL1128AR und/oder Sus
FANCM6147AR und/oder Sus
FH1533AD und/oder AR und/oder SMu und/oder Sus
FLCN1740AD und/oder SMu und/oder Sus
GREM1555AD
HRAS570AD und/oder SMu und/oder Sus
KIT2931AD und/oder AR und/oder SMu und/oder Sus
LIG42736AR und/oder SMu und/oder Sus
LZTR12523AD und/oder AR und/oder SMu
MAX483AD und/oder Sus
MEN11833AD und/oder Sus
MET4227AD und/oder AR und/oder Sus
MITF1260AD und/oder AR und/oder Sus
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH33414AR
MSH64083AD und/oder AR und/oder Sus
MUTYH1650AR und/oder Sus
NBN2265AR und/oder Ass
NF18457AD und/oder SMu und/oder Sus
NF21788AD
NTHL1915AR
PALB23561AD und/oder Sus
PMS22589AR und/oder Sus
POLD13324AD
POLE6861AD und/oder AR
POLH2142AR
POT11905AD und/oder SMu und/oder Sus
PRKAR1A1146AD und/oder Sus
PRSS1744AD und/oder AR und/oder Sus
PTCH14344AD und/oder SMu
PTEN1212AD und/oder SMu und/oder Sus
RAD511023AD und/oder Gen Fusion
RAD51C1131AR und/oder Sus
RAD51D987AD und/oder SMu
RB12787AD und/oder Sus
RECQL43628AR
RET3345AD und/oder Dig und/oder Sus
SDHA1995AD und/oder AR und/oder Sus
SDHAF2501AD und/oder Sus
SDHB843AD und/oder Sus
SDHC510AD und/oder Sus
SDHD480AD und/oder AR und/oder Sus
SEC23B2304AD und/oder AR
SLX45505AR und/oder Sus
SMAD41659AD und/oder SMu und/oder Sus
SMARCA45040AD und/oder SMu und/oder Impr
SMARCB11158AD und/oder SMu und/oder Sus und/oder Impr
SMARCE11236AD
STK111302AD und/oder Sus
SUFU1455AD und/oder AR
TMEM127717AD und/oder Sus
TP531182AD und/oder SMu und/oder Sus
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
UBE2T594AR
VHL642AD und/oder AR und/oder SMu und/oder Sus
WRN4299AR
WT11569AD und/oder Dig und/oder SMu und/oder Sus
XPA822AR
XPC2823AR
XRCC2843AR
AKT11443AD und/oder SMu und/oder Sus
ALK4863AD und/oder Gen Fusion
ATR7935AD und/oder AR
AXIN22532AD
BARD12334AD und/oder SMu
DIS3L22658AR und/oder Sus
HNF1A1896AD und/oder AR und/oder Dig und/oder Sus
HNF1B1674AD und/oder Sus
HOXB13855Mult und/oder SMu
IL1B810AD und/oder Sus
IL1RN543AD und/oder AR und/oder Sus
MC1R954AR
PRCC1476Gen Fusion
RHBDF22484AD

Infos zur Erkrankung

Klinischer Kommentar

für Erwachsene

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AD und/oder Dig und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • Gen Fusion
  • Mult und/oder SMu
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C80.9

Bioinformatik und klinische Interpretation

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