Disorders

SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Gene	Locus	Protein
SDHAF2	11q12.2

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of select exons
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA

^* 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.