Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Th KCNJ10 gene encodes a member of the inward rectifier-type potassium channel family. Its presence in the kidney and in the central nervous system accounts for the comples symptoms of the EAST syndrome, an autosomal recessive disease caused by mutations of that gene.
| 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 | 25 days | |
| Specimen type | genomic DNA |
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