Disorders

Renal Tubular Acidosis, Distal, Autosomal Recessive

Gene	Locus	Protein
ATP6V0A4	7q34	V-type proton ATPase 116 kDa subunit a isoform 4

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain	• Sequence analysis of select exons
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, DNAbiolab - Heraklion, Greece
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA

^* 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.