Disorders

Proximal Renal Tubular Acidosis with Ocular Abnormalities

Gene	Locus	Protein
SLC4A4	4q13.3	Electrogenic sodium bicarbonate cotransporter 1

Laboratory	Test Method	Prenatal	Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
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.