Disorders

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

Synonym(s): LBSL, Mitochondrial Aspartyl-tRNA Synthetase Deficiency

Gene	Locus	Protein
DARS2	1q25.1	Aspartyl-tRNA synthetase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel

^* 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.