Scientific background:

Summary: The protein is a component of a mutiprotein complex associated with chromatin. Mutations cause autosomal recessive Schimke immunoosseous dysplasia.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		20 working days
		Effort		medium
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Schimke RN et al. (1971) Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.
Spranger J et al. (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.
Clewing JM et al. (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation.
Clewing JM et al. (2007) Schimke immunoosseous dysplasia: suggestions of genetic diversity.
Boerkoel CF et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Taha D et al. (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.