Disorders

Pyridoxine-Dependent Epilepsy

Synonym(s): Pyridoxine Dependency, Pyridoxine-Dependent Seizures, Vitamin B6-Dependent Seizures

Gene	Locus	Protein
ALDH7A1	5q31	Alpha-aminoadipic semialdehyde dehydrogenase

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
InVitae Corporation - San Francisco, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA	• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands	• Analyte

^* 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.