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

IllnessBrain tumors, susceptibility

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Summary

Short information

Comprehensive differential diagnostic panel for brain tumor susceptibility containing 7 or 17 curated genes according to the clinical signs

ID
HP6543
Number of genes
12 Accredited laboratory test
Examined sequence length
30,7 kb (Core-/Core-canditate-Genes)
44,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APC8532NM_000038.6AD
ATM9171NM_000051.4AR
MLH12271NM_000249.4AD, AR, Sus
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
PMS22589NM_000535.7Sus, AD
TP531182NM_000546.6AD, Sus
NF18457NM_001042492.3AD, Sus
NF21788NM_000268.4AD, Sus
POT11905NM_015450.3AD
PTEN1212NM_000314.8AR
VHL642NM_000551.4Sus

Informations about the disease

Clinical Comment

Gliomas are CNS neoplasms derived from glial cells comprising astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, subependymomas. Glial cells can show various degrees of differentiation even within the same tumor. Ependymomas are rare glial tumors of the brain and spinal cord. Subependymomas are unusual tumors believed to arise from bipotential subependymal cells, which normally differentiate into either ependymal cells or astrocytes. Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome, melanoma-astrocytoma syndrome, neurofibromatosis-1 + -2, tuberous sclerosis. Familial clustering of gliomas may occur in the absence of these tumor syndromes. Genetic susceptibility to glioma development is also heterogenous.

 

Synonyms
  • Alias: Glioma: astrocytoma, glioblastoma multiforme, oligodendroglioma, ependymoma, subependymoma
  • Allelic: Adenomatous polyposis coli (APC)
  • Allelic: Ataxia-telangiectasia (ATM)
  • Allelic: Basal cell nevus syndrome (PTCH1)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Desmoid disease, hereditary (APC)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Gardner syndrome (APC)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
  • Allelic: Meningioma (PTEN)
  • Allelic: Pheochromocytoma (VHL)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Allelic: Watson syndrome (NF1)
  • Brain tumor-polyposis syndrome 2 (APC)
  • Brain, CNS + PNS cancer [panelapp] (PTCH1)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Glioma susceptibility 1 (TP53)
  • Glioma susceptibility 2 (PTEN)
  • Glioma susceptibility 9 (POT1)
  • Glioma, susceptibility to, somatic (IDH1)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis, type 2 (NF2)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • von Hippel-Lindau syndrome (VHL)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined