Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Use
Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disorder characterized by fever, cytopenias, coagulopathy, hepatosplenomegaly, neurologic symptoms, and hemophagocytosis in the bone marrow, spleen, lymph nodes, or liver. The comprehensive genetic evaluation provided by this test is crucial for diagnosing familial hemophagocytic lymphohistiocytosis (F-HLH). It identifies variants in genes associated with F-HLH, assisting in diagnosis, prognosis, clinical management, and genetic counseling. This test is especially useful for patients with a personal or family history suggestive of F-HLH and for predictive testing of family members at risk.
Special Instructions
Order customization and single gene analysis are available. Patients with previous bone marrow transplants should not have testing performed on blood, bone marrow, or saliva, as results will reflect the donor's genome. Skin biopsy is recommended for patients with active hematologic malignancy. Contact the laboratory for instructions on patients with received hematopoietic stem cell transplants.
Limitations
The test is not validated for detection of somatic mutations and cannot distinguish between germline and somatic variants, which may affect diagnostic, prognostic, or therapeutic use for somatic mutations. Next-generation sequencing may not detect all genomic variations, and false-negative or false-positive results are possible. Regions with homology, high GC content, or repetitive sequences may be missed, and single exon resolution might be limited. This test does not detect low levels of mosaicism and is not meant for differentiation between somatic and germline mutations.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 99971-4
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |