Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations of the BSND gene are responsible for autosomal recessive infantile Bartter syndrome with deafness.
Although exact data are not available, mutation in this gene are thought to occur 1 in 50,000-100,000 newborn.
| 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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