Disorders

Congenital Indifference to Pain, Autosomal Recessive

Synonym(s): Channelopathy-Associated Insensitivity to Pain

Gene	Locus	Protein
SCN9A	2q24	Sodium channel protein type 9 subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
bio.logis Center for Human Genetics - Frankfurt, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Transgenomic - New Haven, CT, USA
University Hospital Jena, Institute of Human Genetics - Jena, Germany	• Linkage analysis
University Medical Center St Radboud, Laboratory of Gastroenterology and Hepatology - Nijmegen, Netherlands

^* 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.