Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel
Use
The Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel analyzes genes associated with hemophagocytic lymphohistiocytosis. HLH is characterized by persistent fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, cytopenias, and hemophagocytosis. This panel provides a broad test for hereditary HLH disorders, which are genetically heterogeneous, allowing for efficient evaluation of many potentially relevant genes based on a single clinical indication.
Special Instructions
The UNC13D 253-kb inversion described in PMID: 21931115 is outside of Invitae’s guaranteed reportable range and may not be analyzed by this test. The test can be customized by removing certain genes if desired. Invitae is a CAP-accredited and CLIA-certified clinical diagnostic laboratory.
Limitations
The assay achieves >99% analytical sensitivity and specificity for SNVs, indels <15bp, and exon-level deletions/duplications. Sensitivity for indels larger than 15bp but smaller than a full exon may be marginally reduced. Certain variants like structural rearrangements (e.g., inversions) or those embedded in complex sequences may not be detected. It may not be possible to fully resolve details about variants such as mosaicism or phasing unless guaranteed. The analysis excludes certain non-coding regions unless explicitly noted.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)