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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHamartomas [extra-gastrointestinal], differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel for Hamartomas [extra-gastrointestinal] containing 5 guideline-curated genes and altogether 14 curated genes according to the clinical suspicion

ID
HP2769
Number of loci
Locus typeCount
Gen 5
Accredited laboratory test
Examined sequence length
10,1 kb (Core-/Core-canditate-Genes)
18,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DICER15769NM_177438.3AD, Sus
NF21788NM_000268.4AD
PTEN1212NM_000314.8AD
STK111302NM_000455.5AD
NF18457NM_001042492.3AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined