Disorders

3-Methylglutaconic Aciduria Type 3

Synonym(s): 3-Methylglutaconic Aciduria Type III, Costeff Optic Atrophy Syndrome, Costeff Syndrome, Optic Atrophy Plus Syndrome

GeneReview OMIM

Gene	Locus	Protein
OPA3	19q13.2-q13.3	Optic atrophy 3 protein

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel	• Targeted mutation analysis
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Targeted mutation analysis • Analyte

^* 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.