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Genetic and Rare Diseases Information Center (GARD)

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Hemophagocytic lymphohistiocytosis

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Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • Hemophagocytic lymphohistiocytosis familial -1
  • HPLH1
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Tests & Diagnosis

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Is genetic testing available for familial hemophagocytic lymphohistiocytosis (FHL)?

Yes. While the diagnosis of FHL is made based on the presence of clinical criteria, it is confirmed by molecular genetic testing. Genetic testing for the four identified genes in which mutations cause the condition is available on a clinical basis. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the two disease-causing mutations in the family are known.[1] In some affected individuals, the genetic cause of the disorder is unknown.[2]

GeneTests lists the names of laboratories that are performing genetic testing for FHL. To view the contact information for the clinical laboratories conducting testing, click here and then click on "Testing" for each type of FHL. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 11/26/2012

  1. Kejian Zhang, Alexandra H Filipovich, Judith Johnson, Rebecca A Marsh, and Joyce Villanueva. Hemophagocytic Lymphohistiocytosis, Familial. GeneReviews. September 7, 2010; Accessed 11/26/2012.
  2. Familial hemophagocytic lymphohistiocytosis. Genetics Home Reference. January 2011; Accessed 11/26/2012.