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

RP4453

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

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SMARCA4	5040	603254	NM_001128849.3	AD
SMARCB1	1158	601607	NM_003073.5	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined