Disorders


 

3-Methylglutaconic Aciduria Type 3


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

 

GeneReviewOMIM

GeneLocusProtein
OPA319q13.2-q13.3Optic atrophy 3 protein

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

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