Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene product is a lysosomal solute transport whose mutations cause sialic acid storage disease.
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.
| 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 |
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