Disorders

Schimke Immunoosseous Dysplasia

Synonym(s): Spondyloepiphyseal Dysplasia, Autosomal Recessive, Spondylo-Epiphyseal Dysplasia, Autosomal Recessive

Gene	Locus	Protein
SMARCAL1	2q35	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Laboratory	Test Method	Prenatal	Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Sequence analysis of the entire coding region
Cologne University, Institute of Human Genetics - Cologne, Germany	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
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.