Hemophagocytic lymphohistiocytosis (HLH) [45 genes]

Familial hemophagocytic lymphohistiocytosis is a life-threatening inflammatory syndrome characterized by histiocytosis, low or absent NK cell activity, and an excess of released cytokines. The severity and progression of untreated disease leads to a median survival of less than two months, with the majority of deaths caused by uncontrolled invasive infections. There is a predisposition to suffer EBV infections, but other viral or bacterial infections can also occur. Clinical diagnostic criteria are confirmed by genetic testing, which explain approximately 45% of HLH patients, whereas 55% of the cases could be categorized as sporadic HLH with a complex origin.

  • Histiocytosis
  • Reduced or absent NK levels, cytopenia
  • Lymphadenopathy
  • Dysregulation of cytokine production
  • Prolonged fever
  • Predisposition to EBV infections

1:50.000

  • Diagnosis and genetic counseling
  • Immunosuppressive therapy

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Hemophagocytic lymphohistiocytosis (HLH)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110286

Hemophagocytic lymphohistiocytosis (HLH): View panel
  • AP3B1
  • AP3D1
  • ASAH1
  • BLOC1S6
  • CARMIL2
  • CD27
  • CD70
  • CDC42
  • CTPS1
  • FAAP24
  • FADD
  • FAS
  • FASLG
  • IFNG
  • IL2RA
  • IL2RB
  • ITK
  • LYST
  • MAGT1
  • MCM4
  • NFAT5
  • NLRC4
  • PIK3CG
  • PRF1
  • PRKCD
  • RAB27A
  • RASGRP1
  • RECQL4
  • SH2D1A
  • SH3BP2
  • SLC29A3
  • SLC7A7
  • STAT1
  • STAT2
  • STX11
  • STXBP2
  • TBK1
  • TNFRSF9
  • TRAF1
  • TRAF2
  • TRAF3
  • UNC13D
  • WAS
  • WIPF1
  • XIAP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Cetica V1, Sieni E1, Pende D2, Danesino C3, De Fusco C4, Locatelli F5, Micalizzi C6, Putti MC7, Biondi A8, Fagioli F9, Moretta L6, Griffiths GM10, Luzzatto L11, Aricò M12. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. J Allergy Clin Immunol. 2016 Jan;137(1):188-196.e4. doi: 10.1016/j.jaci.2015.06.048. Epub 2015 Sep 2.
  2. Henter JI1, Aricò M, Elinder G, Imashuku S, Janka G. Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998 Apr;12(2):417-33.
  3. Henter JI1, Samuelsson-Horne A, Aricò M, Egeler RM, Elinder G, Filipovich AH, Gadner H, Imashuku S, Komp D, Ladisch S, Webb D, Janka G; Histocyte Society. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002 Oct 1;100(7):2367-73.
  4. Mukda E1,2, Trachoo O3, Pasomsub E4, Tiyasirichokchai R2, Iemwimangsa N4, Sosothikul D5, Chantratita W4, Pakakasama S6. Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. Int J Hematol. 2017 Aug;106(2):282-290. doi: 10.1007/s12185-017-2223-3. Epub 2017 Mar 28.
  5. Zhang K, Filipovich AH, Johnson J, Marsh RA, Villanueva J. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Hemophagocytic Lymphohistiocytosis, Familial. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.