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. |
2. |
NCBI article NCBI 1187 |
3. |
OMIM.ORG article Omim 602024 |
4. |
Orphanet article Orphanet ID 159370 |
5. |
Wikipedia article Wikipedia EN (CLCNKA) |