Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
If there is a simultaneous mutation of the chloride channel B (CLCNKB) mutations of CLCNKA gene can cause autosomal recessive infantile Bartter syndrome.
| 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 |
| 1. |
Schlingmann KP et al. (2004) Salt wasting and deafness resulting from mutations in two chloride channels. 
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| 2. |
NCBI article NCBI 1187
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| 3. |
OMIM.ORG article Omim 602024
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| 4. |
Orphanet article Orphanet ID 159370
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| 5. |
Wikipedia article Wikipedia EN (CLCNKA)
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