Disorders

Spastic Paraplegia 5A

Synonym(s): SPG5A

Gene	Locus	Protein
CYP7B1	8q21.3	25-hydroxycholesterol 7-alpha-hydroxylase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
InVitae Corporation - San Francisco, CA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, 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.