©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGlioma, associated with hereditary tumor syndromes


Short information

Comprehensive differential diagnostic panel for Gliomas [associated with hereditary tumor syndromes] comprising 11 guideline-curated genes according to the clinical signs

Number of genes
9 Accredited laboratory test
Examined sequence length
27,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CDKN2A471NM_000077.5AD, Sus
MLH12271NM_000249.4AD, AR
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
PMS22589NM_000535.7Sus, AD

Informations about the disease

Clinical Comment

Heterogenous group of disorders


  • Alias: Glioma: astrocytoma, glioblastoma multiforme, oligodendroglioma, ependymoma, subependymoma
  • Allelic: Adrenocortical carcinoma, pediatric (TP53)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Osteosarcoma (TP53)
  • 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)
  • D-2-hydroxyglutaric aciduria 2 (IDH2)
  • Endometrial cancer, familial (MSH6)
  • Focal cortical dysplasia, type II, somatic (TSC1)
  • Glioma susceptibility 1 (TP53)
  • Glioma, susceptibility to, somatic (IDH1)
  • Leukemia, juvenile myelomonocytic (NF1)
  • Lymphangioleiomyomatosis (TSC1)
  • Melanoma + neural system tumor syndrome (CDKN2A)
  • Melanoma, cutaneous malignant, 2 (CDKN2A)
  • Melanoma-pancreatic cancer syndrome (CDKN2A)
  • Meningioma, NF2-related, somatic (NF2)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis, type 2 (NF2)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Schwannomatosis, somatic (NF2)
  • Tuberous sclerosis-1 (TSC1)
  • Watson syndrome (NF1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined