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)
43,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
APC | 8532 | AD und/oder Sus | |
CDKN1B | 597 | AD und/oder Sus | |
MAX | 483 | AD und/oder Sus | |
MEN1 | 1833 | AD und/oder Sus | |
MLH1 | 2271 | AD und/oder AR und/oder Sus | |
MSH2 | 2805 | AD und/oder AR und/oder Sus | |
MSH6 | 4083 | AD und/oder AR und/oder Sus | |
PMS2 | 2589 | AR und/oder Sus | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
SDHAF2 | 501 | AD und/oder Sus | |
SDHB | 843 | AD und/oder Sus | |
SDHC | 510 | AD und/oder Sus | |
SDHD | 480 | AD und/oder AR und/oder Sus | |
TMEM127 | 717 | AD und/oder Sus | |
VHL | 642 | AD und/oder AR und/oder SMu und/oder Sus | |
BMPR1A | 1599 | AD und/oder Sus | |
CDC73 | 1596 | AD und/oder Sus | |
EPCAM | 945 | AR und/oder SMu und/oder Sus | |
MUTYH | 1650 | AR und/oder Sus | |
NTRK1 | 2373 | AD und/oder AR | |
SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
STK11 | 1302 | AD 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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