Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Chloride channel B is located in the thick ascending loop of Henle. Functional defects in this ion channel result in classic Bartter syndrome.
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 |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
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