Disorders


 

Distal Renal Tubular Acidosis with Progressive Nerve Deafness


 

OMIM

GeneLocusProtein
ATP6V1B12p13V-type proton ATPase subunit B, kidney isoform

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Sequence analysis of the entire coding region
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, DNAbiolab - Heraklion, Greece• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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