Scientific background:

Summary: The gene product is a lysosomal solute transport whose mutations cause sialic acid storage disease.

Test strategy: In patients whose predecessors come from Finland, screening for target mutations might be sufficient. But in the isolated cases that might occur world wide, analysing the whole gene is more appropriate.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 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: 

Aula N et al. (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Verheijen FW et al. (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Aula N et al. (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Morse RP et al. (2005) Novel form of intermediate salla disease: clinical and neuroimaging features.
Biancheri R et al. (2005) Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Strauss KA et al. (2005) Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.
Kleta R et al. (2004) Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.