Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Sialin

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.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Salla disease
SLC17A5
Infantile sialic acid storage disorder
SLC17A5
Update:
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues