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

IllnessRhabdoid tumor predisposition


Short information

Two curated single gene sequence analyses, one of which a guideline-curated gene, according to the clinical suspicion of Rhabdoid tumor predisposition

Number of genes
2 Accredited laboratory test
Examined sequence length
6,2 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

Informations about the disease

Clinical Comment

Rhabdoid tumor, an aggressive pediatric soft tissue sarcoma that arises in kidney, liver, peripheral nerves, miscellaneous soft-parts throughout the body. RT involving CNS is called atypical teratoid rhabdoid tumor


  • Alias: Atypical teratoid rhabdoid tumor
  • Alias: Brain tumor, posterior fossa, of infancy, familial
  • Alias: Malignant rhabdoid tumor
  • Allelic: Coffin-Siris syndrome 3 (SMARCB1)
  • Allelic: Coffin-Siris syndrome 4 (SMARCA4)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • DD: SMARCA4-deficient sarcoma of thorax
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Rhabdoid tumors, somatic (SMARCB1)
Heredity, heredity patterns etc.
  • AD
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined