Hemophagocytic Lymphohistiocytosis (HLH) Genetic Analysis
Also known as: Familial erythrophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis (HLH), Hemophagocytic Syndrome, Macrophage activation syndrome
Use
Diagnostic testing
Special Instructions
Not provided.
Limitations
The test may not detect mosaic patterns, large chromosomal rearrangements, or repeat expansions. False positives or negatives can occur due to rare genetic variants, sample contamination, or inadequate patient information. It does not replace comprehensive clinical evaluation. Changes in interpretation of gene variations may arise as new scientific information becomes available. The assay lacks FDA clearance, yet it is validated under laboratory protocols.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4 - Gene analysis narr rpt Doc
- 51969-4 - Gene analysis narr rpt Doc
- 50397-9 - Mol dx interp Bld/T Ql
- 8251-1 - Service Cmnt-Imp
- 80563-0 - Report
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |
Other tests from different labs that may be relevant