Disorders


 

Familial Hemophagocytic Lymphohistiocytosis 3


Synonym(s): FHL3

 

OMIM

GeneLocusProtein
UNC13D17q25.3 

Laboratory Test Method Prenatal Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
Centogene AG, Rare Disease Company - Rostock, Germany  
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Targeted mutation analysis
• Immunohistochemistry
  
diagenos - Osnabrueck, Germany  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden  
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  
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.

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