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Klinische FragestellungNeuroendokrine Tumore/Polyposis, pädiatrisch; Differentialdiagnose

Zusammenfassung

Kurzinformation

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

ID
TP5859
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
32,3 kb (Core-/Core-canditate-Gene)
53,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
APC8532NM_000038.6AD
CDKN1B597NM_004064.5AD, Sus
MAX483NM_002382.5AD
MEN11833NM_130799.2AD
MLH12271NM_000249.4AD
MSH22805NM_000251.3AD
MSH64083NM_000179.3AD
PMS22589NM_000535.7AD
RET3345NM_020975.6AD
SDHA1995NM_004168.4AR, AD
SDHAF2501NM_017841.4AD
SDHB843NM_003000.3AD
SDHC510NM_003001.5AD
SDHD480NM_003002.4AD, AR, Sus
TMEM127717NM_017849.4AD
VHL642NM_000551.4AD
BMPR1A1599NM_004329.3AD
CDC731596NM_024529.5AD
EPCAM945NM_002354.3AD
MUTYH1650NM_001128425.2AR, Sus
NF18457NM_001042492.3AD
NF21788NM_000268.4AD
NTRK12373NM_001012331.2AD
SMAD41659NM_005359.6AD
STK111302NM_000455.5AD

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
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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