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ErkrankungHamartomas [extra-gastrointestinal], Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes differentialdiagnostisches panel für Hamartomas [extra-gastrointestinal] mit 5 Leitlinien-kuratierten und insgesamt 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
HP2769
Anzahl Gene
0 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

Keine Gene verlinkt

Infos zur Erkrankung

Synonyme
  • Allelic: GLOW syndrome, somatic mosaic (DICER1)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma (PTEN)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Pleuropulmonary blastoma (DICER1)
  • Allelic: Pneumothorax, primary spontaneous (FLCN)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: Watson syndrome (NF1)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 11 (TRIM32)
  • Bardet-Biedl syndrome 12 (BBS12)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 15 (WDPCP)
  • Bardet-Biedl syndrome 16 (SDCCAG8)
  • Bardet-Biedl syndrome 17 (LZTFL1)
  • Bardet-Biedl syndrome 18 (BBIP1)
  • Bardet-Biedl syndrome 19 (IFT27)
  • Bardet-Biedl syndrome 2 (BBS2)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 4 (BBS4)
  • Bardet-Biedl syndrome 5 (BBS5)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 7 (BBS7)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Bardet-Biedl syndrome 9 (BBS9)
  • Basal cell nevus syndrome (PTCH1)
  • Basal cell nevus syndrome (PTCH2)
  • Basal cell nevus syndrome (SUFU)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Cowden syndrome 1 (PTEN)
  • Cowden syndrome 6 (AKT1)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 17 (C5orf42 syn. CPLANE1)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 29 (TMEM107)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 32 (SUFU)
  • Joubert syndrome 34 (B9D2)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Lhermitte-Duclos disease (PTEN)
  • Luscan-Lumish syndrome (SETD2)
  • Macrocephaly/autism syndrome (PTEN)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis, type 2 (NF2)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Pallister-Hall syndrome (GLI3)
  • Peutz-Jeghers syndrome (STK11)
  • Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
  • Polyposis, juvenile intestinal (BMPR1A)
  • Polyposis, juvenile intestinal (SMAD4)
  • Rhabdomyosarcoma, embryonal, 2 (DICER1)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
D36.-

Bioinformatik und klinische Interpretation

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