Familial Hemophagocytic Lymphohistiocytosis NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Familial Hemophagocytic Lymphohistiocytosis (fHLH) is a disorder characterized by the overproduction of active immune cells. Individuals with this condition often present with fever, cytopenia, and hepatosplenomegaly. Rash and lymphadenopathy are less common. These symptoms typically develop during childhood and progress with age. Neurologic abnormalities may also develop. Early diagnosis and treatment are of the utmost importance to prolong life expectancy.

The Fulgent Familial Hemophagocytic Lymphohistiocytosis NGS panel includes the four most common genes associated with fHLH, PRF1, STX11, STXBP2, and UNC13D. The panel also includes genes associated with X-linked lymphoproliferative disease and Griscelli syndrome, which present with similar features.This panel may be appropriate for anyone with a personal or family history of fHLH. It is important that anyone with a family history of the disease receive testing, as the warning signs are sometimes misdiagnosed and early intervention can critically impact a patient’s prognosis.Genetic testing can help anyone with a family history of fHLH assess the risk for their children. Early diagnosis can have a significant impact on treatment outcomes.

Genetic testing for familial hemophagocytic lymphohistiocytosis can:
  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional related symptoms
  • Connect patients to relevant resources & support
  • Result in more personalized treatment and symptom management
  • Inform family members about their own risk factors
  • Provide options for family planning

Test Description

  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP ( 7 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

CPT Code 81403, 81404, 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.


Familial Hemophagocytic Lymphohistiocytosis