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GenetischePanel-Diagnostik

ErkrankungSiegelringzell-Karzinom

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Siegelringzell-Karzinom mit 1 bzw. zusammen genommen 8 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP4478
Anzahl Gene
8
Untersuchte Sequenzlänge
2,7 kb (Core-/Basis-Gene)
35,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CDH12649AD und/oder SMu und/oder Sus
ATM9171AD und/oder AR und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
CTNNA12721AD und/oder Sus
MAP3K63867Mult und/oder SMu und/oder Sus
MLH12271AD und/oder AR und/oder Sus
PALB23561AD und/oder Sus
TP531182AD und/oder SMu und/oder Sus

Infos zur Erkrankung

Synonyme
  • Alias: Siegelring-Karzinom
  • Alleilic: Breast cancer, lobular (CDH1)
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Blepharocheilodontic syndrome 1 (CDH1)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Endometrial carcinoma, somatic (CDH1)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Allelic: Lymphoma, mantle cell, somatic (ATM)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Muir-Torre syndrome (MLH1)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Ovarian cancer, somatic (CDH1)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: Prostate cancer, susceptibility to (CDH1)
  • Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
  • Allelic: Wilms tumor (BRCA2)
  • Ataxia-telangiectasia (ATM)
  • Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group N (PALB2)
  • Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
  • Hereditäres diffuses Magenkarzinom
  • Li-Fraumeni syndrome (TP53)
  • Macular dystrophy, patterned, 2 (CTNNA2)
  • Mismatch repair cancer syndrome 1 (MLH1)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • Mult und/oder SMu und/oder Sus
OMIM-Ps
  • Keine OMIM-Ps verknüpft
ICD10 Code
C16.-

Bioinformatik und klinische Interpretation

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