Disorders

3-Methylglutaconic Aciduria Type 5

Synonym(s): 3 Methylglutaconic Aciduria, Type V, Dilated Cardiomyopathy with Ataxia

Gene	Locus	Protein
DNAJC19	3q26.33	Mitochondrial import inner membrane translocase subunit TIM14

Laboratory	Test Method	Prenatal	Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* 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.