Disorders


 

Rhabdoid Tumor Predisposition Syndrome 1


Synonym(s): Familial Posterior Fossa Brain Tumor of Infancy, RTPS1

 

OMIM

GeneLocusProtein
SMARCB122q11.23SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Laboratory Test Method Prenatal Carrier *
Children's Hospital of Philadelphia, Cancer Genetics - Philadelphia, PA, USA• Sequence analysis of the entire coding region
• FISH-metaphase
• FISH-interphase
• Deletion/duplication analysis
• Immunohistochemistry
 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA• Sequence analysis of the entire coding region
• FISH-interphase
• Deletion/duplication analysis
• Immunohistochemistry
 
Monash Medical Centre, Genetics and Molecular Pathology - Melbourne, Australia• Mutation scanning of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* 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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