Disorders

SAMHD1-Related Aicardi-Goutieres Syndrome

Gene	Locus	Protein
SAMHD1	20pter-q12	SAM domain and HD domain-containing protein 1

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GGA - Galil Genetic Analysis - Kazerin, Israel
Medical Neurogenetics - Atlanta, GA, USA
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain

^* 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.