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)
273,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AIP | 993 | AD und/oder Sus | |
APC | 8532 | AD und/oder Sus | |
ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
BAP1 | 2190 | AD und/oder SMu und/oder Sus | |
BLM | 4254 | AR und/oder Sus | |
BMPR1A | 1599 | AD und/oder Sus | |
BRCA1 | 5592 | AD und/oder AR und/oder SMu und/oder Sus | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
BRIP1 | 3750 | AD und/oder Sus | |
CDC73 | 1596 | AD und/oder Sus | |
CDH1 | 2649 | AD und/oder SMu und/oder Sus | |
CDK4 | 912 | AD und/oder SMu | |
CDKN1B | 597 | AD und/oder Sus | |
CDKN2A | 471 | AD und/oder SMu und/oder Sus | |
CHEK2 | 1632 | AD und/oder SMu | |
CYLD | 2871 | AD | |
DDB2 | 1284 | AR | |
DICER1 | 5769 | AD und/oder Sus | |
EPCAM | 945 | AR und/oder SMu und/oder Sus | |
ERCC1 | 972 | AR | |
ERCC2 | 2283 | AR | |
ERCC3 | 2349 | AR | |
ERCC4 | 2751 | AR | |
ERCC5 | 3561 | AR | |
EXT1 | 2241 | AD und/oder Ass | |
EXT2 | 2157 | AD und/oder AR | |
FANCA | 4368 | AR und/oder Sus | |
FANCB | 2580 | XLR und/oder Sus | |
FANCC | 1677 | AR und/oder Sus | |
FANCE | 1611 | AR und/oder Sus | |
FANCF | 1125 | AR und/oder Sus | |
FANCG | 1869 | AR und/oder Sus | |
FANCI | 3987 | AR und/oder Sus | |
FANCL | 1128 | AR und/oder Sus | |
FANCM | 6147 | AR und/oder Sus | |
FH | 1533 | AD und/oder AR und/oder SMu und/oder Sus | |
FLCN | 1740 | AD und/oder SMu und/oder Sus | |
GREM1 | 555 | AD | |
HRAS | 570 | AD und/oder SMu und/oder Sus | |
KIT | 2931 | AD und/oder AR und/oder SMu und/oder Sus | |
LIG4 | 2736 | AR und/oder SMu und/oder Sus | |
LZTR1 | 2523 | AD und/oder AR und/oder SMu | |
MAX | 483 | AD und/oder Sus | |
MEN1 | 1833 | AD und/oder Sus | |
MET | 4227 | AD und/oder AR und/oder Sus | |
MITF | 1260 | AD und/oder AR und/oder Sus | |
MLH1 | 2271 | AD und/oder AR und/oder Sus | |
MSH2 | 2805 | AD und/oder AR und/oder Sus | |
MSH3 | 3414 | AR | |
MSH6 | 4083 | AD und/oder AR und/oder Sus | |
MUTYH | 1650 | AR und/oder Sus | |
NBN | 2265 | AR und/oder Ass | |
NF1 | 8457 | AD und/oder SMu und/oder Sus | |
NF2 | 1788 | AD | |
NTHL1 | 915 | AR | |
PALB2 | 3561 | AD und/oder Sus | |
PMS2 | 2589 | AR und/oder Sus | |
POLD1 | 3324 | AD | |
POLE | 6861 | AD und/oder AR | |
POLH | 2142 | AR | |
POT1 | 1905 | AD und/oder SMu und/oder Sus | |
PRKAR1A | 1146 | AD und/oder Sus | |
PRSS1 | 744 | AD und/oder AR und/oder Sus | |
PTCH1 | 4344 | AD und/oder SMu | |
PTEN | 1212 | AD und/oder SMu und/oder Sus | |
RAD51 | 1023 | AD und/oder Gen Fusion | |
RAD51C | 1131 | AR und/oder Sus | |
RAD51D | 987 | AD und/oder SMu | |
RB1 | 2787 | AD und/oder Sus | |
RECQL4 | 3628 | AR | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
SDHAF2 | 501 | AD und/oder Sus | |
SDHB | 843 | AD und/oder Sus | |
SDHC | 510 | AD und/oder Sus | |
SDHD | 480 | AD und/oder AR und/oder Sus | |
SEC23B | 2304 | AD und/oder AR | |
SLX4 | 5505 | AR und/oder Sus | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
SMARCA4 | 5040 | AD und/oder SMu und/oder Impr | |
SMARCB1 | 1158 | AD und/oder SMu und/oder Sus und/oder Impr | |
SMARCE1 | 1236 | AD | |
STK11 | 1302 | AD und/oder Sus | |
SUFU | 1455 | AD und/oder AR | |
TMEM127 | 717 | AD und/oder Sus | |
TP53 | 1182 | AD und/oder SMu und/oder Sus | |
TSC1 | 3495 | AD und/oder Sus | |
TSC2 | 5424 | AD und/oder Sus | |
UBE2T | 594 | AR | |
VHL | 642 | AD und/oder AR und/oder SMu und/oder Sus | |
WRN | 4299 | AR | |
WT1 | 1569 | AD und/oder Dig und/oder SMu und/oder Sus | |
XPA | 822 | AR | |
XPC | 2823 | AR | |
XRCC2 | 843 | AR | |
AKT1 | 1443 | AD und/oder SMu und/oder Sus | |
ALK | 4863 | AD und/oder Gen Fusion | |
ATR | 7935 | AD und/oder AR | |
AXIN2 | 2532 | AD | |
BARD1 | 2334 | AD und/oder SMu | |
DIS3L2 | 2658 | AR und/oder Sus | |
HNF1A | 1896 | AD und/oder AR und/oder Dig und/oder Sus | |
HNF1B | 1674 | AD und/oder Sus | |
HOXB13 | 855 | Mult und/oder SMu | |
IL1B | 810 | AD und/oder Sus | |
IL1RN | 543 | AD und/oder AR und/oder Sus | |
MC1R | 954 | AR | |
PRCC | 1476 | Gen Fusion | |
RHBDF2 | 2484 | AD |
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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