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.
Who is this test for?
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.
What are the potential benefits for my patient?
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