Disorders

Schwannomatosis

Synonym(s): Congenital Cutaneous Neurilemmomatosis

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 *
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA	• FISH-metaphase • FISH-interphase • Immunohistochemistry
Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Genetic Diagnostics for Hereditary Cancer Unit - Badalona, Spain	• Linkage analysis
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* 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.