Disorders

Familial Hemophagocytic Lymphohistiocytosis 2

Synonym(s): FHL2

Gene	Locus	Protein
PRF1	10q22	Perforin-1

Laboratory	Test Method	Prenatal	Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Burc Molecular Genetics Laboratory - 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	• Protein analysis • Immunohistochemistry
diagenos - Osnabrueck, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea

^* 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.