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

IllnessEpendymoma, differential diagnosis

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Summary

Short information

Comprensive panel for Ependymomas containing curated genes

ID
EP6391
Number of genes
4 Accredited laboratory test
Examined sequence length
11,5 kb (Core-/Core-canditate-Genes)
14,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
NF18457NM_001042492.3AD, Sus
NF21788NM_000268.4AD, Sus
TP531182NM_000546.6AD, Sus
LZTR12523NM_006767.4AD, Sus

Informations about the disease

Synonyms
  • Allelic: Autoinflammatory disease, familial, Behcet-like-3 (RELA)
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Noonan syndrome 10 (LZTR1)
  • Allelic: Noonan syndrome 2 (LZTR1)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
  • Allelic: Watson syndrome (NF1)
  • Allelic:: Meningioma, NF2-related, somatic (NF2)
  • Allelic:: Schwannomatosis, somatic (NF2)
  • Allelic:: Schwannomatosis, vestibular (NF2)
  • Glioma susceptibility 1 (TP53)
  • Neurofibromatosis, type 1 (NF1)
Heredity, heredity patterns etc.
  • AD
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined