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GenetischePanel-Diagnostik

ErkrankungPolyposis, APC-assoziierte; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Polyposis, APC-assoziierte, mit 4 bzw. zusammen genommen 19 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP0008
Anzahl Gene
19
Untersuchte Sequenzlänge
14,6 kb (Core-/Basis-Gene)
60,3 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
APC8532AD und/oder Sus
MSH33414AR
MUTYH1650AR und/oder Sus
NTHL1915AR
AXIN22532AD
BMPR1A1599AD und/oder Sus
EPCAM945AR und/oder SMu und/oder Sus
GREM1555AD
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
NF18457AD und/oder SMu und/oder Sus
PMS22589AR und/oder Sus
POLD13324AD
POLE6861AD und/oder AR
PTEN1212AD und/oder SMu und/oder Sus
RNF435500AD
SMAD41659AD und/oder SMu und/oder Sus
STK111302AD und/oder Sus

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen - DD

 

Synonyme
  • Alias: APC-related attenuated familial polyposis coli (APC)
  • Allelic: Adenoma, periampullary, somatic (APC)
  • Allelic: Colorectal cancer, susceptibility to, 10 (POLD1)
  • Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Endometrial carcinoma, somatic (MSH3)
  • Allelic: FILS syndrome (POLE)
  • Allelic: Gastric cancer, somatic (APC)
  • Allelic: Gastric cancer, somatic (MUTYH)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Hepatoblastoma, somatic (APC)
  • Allelic: IMAGE-I syndrome (POLE)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
  • Allelic: Melanoma, malignant, somatic (STK11)
  • Allelic: Meningioma (PTEN)
  • Allelic: Mismatch repair cancer syndrome 1 (MLH1)
  • Allelic: Mismatch repair cancer syndrome 2 (MSH2)
  • Allelic: Mismatch repair cancer syndrome 3 (MSH6)
  • Allelic: Mismatch repair cancer syndrome 4 (PMS2)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Pancreatic cancer, somatic (STK11)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Testicular tumor, somatic (STK11)
  • Allelic: Watson syndrome (NF1)
  • Adenomas, multiple colorectal (MUTYH)
  • Adenomatous polyposis coli (APC)
  • Brain tumor-polyposis syndrome 2 (APC)
  • 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, somatic (APC)
  • Colorectal cancer, somatic (AXIN2)
  • Cowden syndrome 1 (PTEN)
  • Familial adenomatous polyposis 1 (APC)
  • Familial adenomatous polyposis 2 (MYTYH)
  • Familial adenomatous polyposis 3 (NTHL1)
  • Familial adenomatous polyposis 4 (MSH3)
  • Familial adenomatous polyposis [FAP], attenuated FAP (APC)
  • Gardner syndrome (APC)
  • Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Lhermitte-Duclos syndrome (PTEN)
  • Muir-Torre syndrome (MLH1)
  • Muir-Torre syndrome (MSH2)
  • Neurofibromatosis, type 1 (NF1)
  • Oligodontia-colorectal cancer syndrome /AXIN2)
  • Peutz-Jeghers syndrome (STK11)
  • Polyposis syndrome, hereditary mixed, 1 (GREM1)
  • Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
  • Polyposis, juvenile intestinal (BMPR1A)
  • Polyposis, juvenile intestinal (SMAD4)
  • Proximal polyposis of the stomach [GAPPS] (APC)
  • Sessile serrated polyposis cancer syndrome (RNF43)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
OMIM-Ps
  • Keine OMIM-Ps verknüpft
ICD10 Code
Q85.8

Bioinformatik und klinische Interpretation

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