Disorders

Rhabdoid Tumor Predisposition Syndrome 1

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

Gene	Locus	Protein
SMARCB1	22q11.23	SWI/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.