Disorders

TCIRG1-Related Autosomal Recessive Osteopetrosis

Gene	Locus	Protein
TCIRG1	11q13.2	V-type proton ATPase 116 kDa subunit a isoform 3

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Connective Tissue Gene Tests - Allentown, PA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain

^* 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.