Disorders


 

Rhabdoid Tumor Predisposition Syndrome 2


Synonym(s): RTPS2

 

OMIM

GeneLocusProtein
SMARCA419p13.3Transcription activator BRG1

Laboratory Test Method Prenatal Carrier *
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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