Disorders

Spastic Paraplegia 31

Synonym(s): HSP31, SPG 31, SPG31, SPG31

Gene	Locus	Protein
REEP1	2p11.2	Receptor expression-enhancing protein 1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GSTS Pathology, DNA Laboratory - London, Great Britain
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands	• Mutation scanning of select exons
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Ruhr University, Human Genetics - Bochum, Germany
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.