Disorders

Familial Hemophagocytic Lymphohistiocytosis 4

Synonym(s): FHL4

Gene	Locus	Protein
STX11	6q24.1	Syntaxin-11

Laboratory	Test Method	Prenatal	Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Immunohistochemistry
diagenos - Osnabrueck, Germany
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Medgene, MedGene - Bratislava, Slovakia
Novogenia - Mondsee, Austria
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, 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.