Disorders

C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Gene	Locus	Protein
C9orf72	9p21.1	Uncharacterized protein C9orf72

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany	• Targeted mutation analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
Secugen SL - Madrid, Spain	• Targeted mutation analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Targeted mutation analysis
University Hospital Ulm, Institute of Human Genetics - Ulm, Germany	• Targeted mutation analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Targeted mutation analysis

^* 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.