Deutsch
IllnessRhabdoid tumor predisposition
Summary
Short information
Two curated single gene sequence analyses, one of which a guideline-curated gene, according to the clinical suspicion of Rhabdoid tumor predisposition
ID
RP4453
Number of genes
2
Accredited laboratory test
Examined sequence length
6,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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
Synonyms
- 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
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined