Klinische FragestellungPolyposis, APC-assoziierte; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Polyposis, APC-assoziierte, mit 11 Leitlinien-kuratierten bzw. zusammen genommen 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP0008
Anzahl Gene
19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
15,6 kb (Core-/Core-canditate-Gene)
58,9 kb (Erweitertes Panel: inkl. additional genes)
58,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
APC | 8532 | NM_000038.6 | AD | |
BMPR1A | 1599 | NM_004329.3 | AD | |
MUTYH | 1650 | NM_001128425.2 | AR | |
NTHL1 | 915 | NM_002528.7 | AR | |
PTEN | 1212 | NM_000314.8 | AD | |
SMAD4 | 1659 | NM_005359.6 | AD | |
EPCAM | 945 | NM_002354.3 | AD | |
GREM1 | 555 | NM_013372.7 | AD | |
MLH1 | 2271 | NM_000249.4 | AD | |
MSH2 | 2805 | NM_000251.3 | AD | |
MSH3 | 3414 | NM_002439.5 | AR | |
MSH6 | 4083 | NM_000179.3 | AD | |
NF1 | 8457 | NM_001042492.3 | AD | |
PMS2 | 2589 | NM_000535.7 | AD | |
POLD1 | 3324 | NM_002691.4 | AD | |
POLE | 6861 | NM_006231.4 | AD | |
RNF43 | 5500 | NM_017763.6 | AD | |
STK11 | 1302 | NM_000455.5 | AD | |
TP53 | 1182 | NM_000546.6 | AD |
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, somatic (AXIN2)
- 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: Uveal melanoma, susceptibility to, 1 (MBD4)
- 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)
- 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)
- Tumor predisposition syndrome 2 (MBD4)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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