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ErkrankungTumor-Schnittmengen panel

Zusammenfassung

Kurzinformation

TP0815_KI

ID
TP0815
Anzahl Gene
29 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
87,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

TP0815_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
APC8532AD und/oder Sus
ATM9171AD und/oder AR und/oder SMu und/oder Sus
BAP12190AD und/oder SMu 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
CDH12649AD und/oder SMu und/oder Sus
CDK4912AD und/oder SMu
CDKN2A471AD und/oder SMu und/oder Sus
CHEK21632AD und/oder SMu
EPCAM945AR und/oder SMu und/oder Sus
GREM1555AD
HOXB13855Mult und/oder SMu
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
MUTYH1650AR und/oder Sus
PALB23561AD und/oder Sus
PALLD3372Sus
PMS22589AR und/oder Sus
POLD13324AD
POLE6861AD und/oder AR
PTEN1212AD und/oder SMu und/oder Sus
RAD51C1131AR und/oder Sus
RAD51D987AD und/oder SMu
SMAD41659AD und/oder SMu und/oder Sus
STK111302AD und/oder Sus
TP531182AD und/oder SMu und/oder Sus

Infos zur Erkrankung

Synonyme
  • Alias: Solid cancer predisposition genes
  • Allelic: Adrenal adenoma, somatic (MEN1)
  • Allelic: Angiofibroma, somatic (MEN1)
  • Allelic: Ataxia-telangiectasia (ATM)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Fanconi anemia, complementation group S (BRCA1)
  • Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Lipoma, somatic (MEN1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Multiple endocrine neoplasia 1 (MEN1)
  • Allelic: Parathyroid adenoma, somatic (MEN1)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Adrenocortical carcinoma, pediatric (TP53)
  • Basal cell carcinoma 7 (TP53)
  • Breast cancer, somatic (TP53)
  • Breast cancer, susceptibility to (ATM)
  • Breast-ovarian cancer, familial, 1 (BRCA1)
  • Carcinoid tumor of lung (MEN1)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Choroid plexus papilloma (TP53)
  • Colorectal cancer (TP53)
  • Cowden syndrome 1 (PTEN)
  • DNA damage repair defect [panelapp] (ZNF668)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group P (SLX4)
  • Glioma susceptibility 1 (TP53)
  • Glioma susceptibility 2 (PTEN)
  • Hepatocellular carcinoma, somatic (TP53)
  • IUGR, short stature, failure to thrive, body asymmetry [panelapp] (NLRP5)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Li-Fraumeni syndrome (TP53)
  • Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Lymphoma, mantle cell, somatic (ATM)
  • Maternal effect gene causing phenotypes that include IUGR [panelapp] (NLRP2)
  • Medullary thyroid carcinoma (RET)
  • Meningioma (PTEN)
  • Microcephaly, growth deficiency, global dev. delay, brain malformation [panelapp] (ZNF668)
  • Multilocus imprinting disturbances [panelapp] (NLRP5)
  • Multiple endocrine neoplasia IIA, IIB (RET)
  • Nasopharyngeal carcinoma, somatic (TP53)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Osteosarcoma (TP53)
  • Pancreatic cancer, somatic (TP53)
  • Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Pheochromocytoma (RET)
  • Prostate cancer, somatic (PTEN)
  • Renal cell carcinoma, papillary (PRCC)
  • Revesz syndrome (TINF2)
  • Schwannomatosis-2, susceptibility to (LZTR1)
  • T-cell prolymphocytic leukemia, somatic (ATM)
  • Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • Mult und/oder SMu
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C76.-

Bioinformatik und klinische Interpretation

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