Disorders

Osteopetrosis with Renal Tubular Acidosis

Gene	Locus	Protein
CA2	8q21.2	Carbonic anhydrase 2

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
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.