Disorders

IMPDH1-Related Leber Congenital Amaurosis

Gene	Locus	Protein
IMPDH1	7q31.3-q32

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, 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.