Disorders

Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay

Gene	Locus	Protein
GFER	16p13.3-p13.12	FAD-linked sulfhydryl oxidase ALR

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, 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.