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ErkrankungMultiple gutartige Hauttumore, monogen bedingt; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Multiple gutartige Hauttumore, monogen bedingt, mit 5 bzw. zusammen genommen 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP9967
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,5 kb (Core-/Basis-Gene)
48,0 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
CYLD2871AD
FLCN1740AD und/oder SMu und/oder Sus
LEMD32736AD
MLH12271AD und/oder AR und/oder Sus
MSH22805AD und/oder AR und/oder Sus
HR3570AD und/oder AR
MSH64083AD und/oder AR und/oder Sus
NF18457AD und/oder SMu und/oder Sus
PLCD12334AD und/oder AR
PMS22589AR und/oder Sus
PTCH14344AD und/oder SMu
PTEN1212AD und/oder SMu und/oder Sus
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus

Infos zur Erkrankung

Synonyme
  • Allelic: Alopecia universalis (HR)
  • Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Allelic: Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Allelic: Colorectal cancer, somatic (FLCN)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Frontotemporal dementia and/or amytrophic lateral sclerosis 8 (CYLD)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Kosaki overgrowth syndrome (PDGFRB)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Macrocephaly
  • Allelic: Meningioma (PTEN)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Pneumothorax, primary spontaneous (FLCN)
  • Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
  • Atrichia with papular lesions (HR)
  • Basal cell nevus syndrome (PTCH1)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Brooke-Spiegler syndrome (CYLD)
  • Buschke-Ollendorff syndrome (LEMD3)
  • Cowden syndrome 1 (PTEN)
  • Cylindromatosis, familial (CYLD)
  • Lhermitte-Duclos syndrome (PTEN)
  • 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)
  • Myofibromatosis, infantile 2 (NOTCH3)
  • Myofibromatosis, infantile, 1 (PDGFRB)
  • Nail disorder, nonsyndromic congenital, 3, [leukonychia; pilar trichol,mmal cysts] (PLCD1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Osteopoikilosis with/-out melorheostosis (LEMD3)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Trichoepithelioma, multiple familial, 1 (CYLD)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Watson syndrome (NF1)
  • autism syndrome (PTEN)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Sus
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D23.-

Bioinformatik und klinische Interpretation

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