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GenetischePanel-Diagnostik

ErkrankungGastrointestinale Tumore, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gastrointestinale Tumore mit 6 bzw. insgesamt 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP4488
Anzahl Gene
16 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,0 kb (Core-/Basis-Gene)
43,9 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
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
PMS22589AR und/oder Sus
AKT11443AD und/oder SMu und/oder Sus
BMPR1A1599AD und/oder Sus
CDH12649AD und/oder SMu und/oder Sus
EPCAM945AR und/oder SMu und/oder Sus
NTHL1915AR
POLD13324AD
POLE6861AD und/oder AR
PTEN1212AD und/oder SMu und/oder Sus
SMAD41659AD und/oder SMu und/oder Sus
STK111302AD und/oder Sus

Infos zur Erkrankung

Synonyme
  • Alias: GI tract tumours
  • Allelic: Adenoma, periampullary, somatic (APC)
  • Allelic: Blepharocheilodontic syndrome 1 (CDH1)
  • Allelic: Brain tumor-polyposis syndrome 2 (APC)
  • Allelic: Breast cancer, lobular (CDH1)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Endometrial carcinoma, somatic (CDH1)
  • Allelic: FILS syndrome (POLE)
  • Allelic: Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
  • 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: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
  • Allelic: Melanoma, malignant, somatic (STK11)
  • Allelic: Meningiom (PTEN)
  • Allelic: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Ovarian cancer, somatic (CDH1)
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Pancreatic cancer, somatic (STK11)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Prostate cancer, susceptibility to (CDH1)
  • Allelic: Testicular tumor, somatic (STK11)
  • Adenomas, multiple colorectal (MUTYH)
  • Adenomatous polyposis coli (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, susceptibility to, 10 (POLD1)
  • Colorectal cancer, susceptibility to, 12 (POLE)
  • Cowden syndrome 1 (PTEN)
  • Familial adenomatous polyposis 1 (APC)
  • Familial adenomatous polyposis 2 (MUTYH)
  • Familial adenomatous polyposis 3 (NTHL1)
  • Gardner syndrome (APC)
  • Juvenile polyposis syndrome, infantile form (BMPR1A)
  • Lhermitte-Duclos syndrome (PTEN)
  • Peutz-Jeghers syndrome (STK11)
  • Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
  • Polyposis, juvenile intestinal (BMPR1A)
  • Polyposis, juvenile intestinal (SMAD4)
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
  • Multiple OMIM-Ps
ICD10 Code
C97!

Bioinformatik und klinische Interpretation

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