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ErkrankungNeuroendokrine Tumore/Polyposis, pädiatrisch; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuroendokrine Tumore/Polyposis, pädiatrisch, mit 17 bzw. zusammen genommen 28 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP5859
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
32,3 kb (Core-/Basis-Gene)
43,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
APC8532AD und/oder Sus
CDKN1B597AD und/oder Sus
MAX483AD und/oder Sus
MEN11833AD und/oder Sus
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
MSH64083AD und/oder AR und/oder Sus
PMS22589AR und/oder Sus
RET3345AD und/oder Dig und/oder Sus
SDHA1995AD und/oder AR und/oder Sus
SDHAF2501AD und/oder Sus
SDHB843AD und/oder Sus
SDHC510AD und/oder Sus
SDHD480AD und/oder AR und/oder Sus
TMEM127717AD und/oder Sus
VHL642AD und/oder AR und/oder SMu und/oder Sus
BMPR1A1599AD und/oder Sus
CDC731596AD und/oder Sus
EPCAM945AR und/oder SMu und/oder Sus
MUTYH1650AR und/oder Sus
NTRK12373AD und/oder AR
SMAD41659AD und/oder SMu und/oder Sus
STK111302AD und/oder Sus

Infos zur Erkrankung

Klinischer Kommentar

Gruppe heterogener Erkrankungen

 

Synonyme
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
  • 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: Myhre syndrome (SMAD4)
  • Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
  • Adenoma, periampullary, somatic (APC)
  • Adenomas, multiple colorectal (MUTYH)
  • Adenomatous polyposis coli (APC)
  • Adrenal adenoma, somatic (MEN1)
  • Angiofibroma, somatic (MEN1)
  • Brain tumor-polyposis syndrome 2 (APC)
  • Carcinoid tumor of lung (MEN1)
  • 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)
  • Desmoid disease, hereditary (APC)
  • Endometrial cancer, familial (MSH6)
  • Gardner syndrome (APC)
  • Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
  • Gastric cancer, somatic (APC)
  • Gastric cancer, somatic (MUTYH)
  • Gastrointestinal stromal tumor (SDHB, SDHC)
  • Hemangioblastoma, cerebellar, somatic (VHL)
  • Hepatoblastoma, somatic (APC)
  • Hyperparathyroidism, familial primary (CDC73)
  • Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Lipoma, somatic (MEN1)
  • Medullary thyroid carcinoma (RET)
  • Melanoma, malignant, somatic (STK11)
  • 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, MSH2)
  • Multiple endocrine neoplasia 1 (MEN1)
  • Multiple endocrine neoplasia IIA (RET)
  • Multiple endocrine neoplasia IIB (RET)
  • Multiple endocrine neoplasia, type IV (CDKN1B)
  • Pancreatic cancer, somatic (SMAD4)
  • Pancreatic cancer, somatic (STK11)
  • Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
  • Paragangliomas 1, with or without deafness (SDHD)
  • Paragangliomas 2 (SDHAF2)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Parathyroid adenoma with cystic changes (CDC73)
  • Parathyroid adenoma, somatic (MEN1)
  • Parathyroid carcinoma (CDC73)
  • Peutz-Jeghers syndrome (STK11)
  • Pheochromocytoma (RET, SDHB, SDHD, VHL)
  • Pheochromocytoma, susceptibility to (MAX, TMEM127)
  • Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
  • Polyposis, juvenile intestinal (BMPR1A)
  • Polyposis, juvenile intestinal (SMAD4)
  • Renal cell carcinoma, somatic (VHL)
  • Testicular tumor, somatic (STK11)
  • von Hippel-Lindau syndrome (VHL)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig und/oder Sus
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Z80.8

Bioinformatik und klinische Interpretation

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