Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Kidney chloride channel A

If there is a simultaneous mutation of the chloride channel B (CLCNKB) mutations of CLCNKA gene can cause autosomal recessive infantile Bartter syndrome.

Genetests:

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

Related Diseases:

Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB

References:

1.

Schlingmann KP et al. (2004) Salt wasting and deafness resulting from mutations in two chloride channels.

external link
2.

NCBI article

NCBI 1187 external link
3.

OMIM.ORG article

Omim 602024 external link
4.

Orphanet article

Orphanet ID 159370 external link
5.

Wikipedia article

Wikipedia EN (CLCNKA) external link
Update: Aug. 14, 2020
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