Disorders

Spastic Paraplegia 3A

Synonym(s): HSP3, Spastic Paraplegia 3, SPG 3, SPG 3A, SPG3

Gene	Locus	Protein
ATL1	14q21.3	Atlastin-1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
GSTS Pathology, DNA Laboratory - London, Great Britain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
InVitae Corporation - San Francisco, CA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Ruhr University, Human Genetics - Bochum, Germany	• Mutation scanning of the entire coding region
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany
University of Goettingen, Institute of Human Genetics - Goettingen, Germany

^* 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.