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HelpTest ID HLHGP Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Ordering Guidance
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblasts
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)
Useful For
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH)
Establishing a diagnosis of F-HLH, allowing for appropriate management and surveillance for disease features based on the gene and/or variant involved
Identifying variants within genes known to be associated with F-HLH, allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 23 genes associated with primary hemophagocytic lymphohistiocytosis (HLH, also known as familial HLH or F-HLH): ADA, AP3B1, AP3D1, BLOC1S6, CD27, CD70, CDC42, CORO1A, CTPS1, IFNAR2, ITK, LYST, MAGT1, MVK, NLRC4, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, and XIAP.
This test may aid in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH) or a related disorder. This test is not intended or validated for detection of somatic variants and cannot distinguish between germline variants associated with primary HLH versus somatic (oncogenic, nongermline) variants, which may be associated with hematologic neoplasms. Therefore, this test does not provide diagnostic, prognostic, or therapeutic information for somatic variants. Variants detected by this test are interpreted as germline unless otherwise noted in the interpretation. If a patient has active hematological malignancy, skin biopsy is recommended (instead of whole blood) for detection of germline variants.
See Targeted Genes and Methodology Details for Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for HLH.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
HLH Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Skin biopsy or cultured fibroblasts: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81443
88233- Tissue culture, skin, solid tissue biopsy (if appropriate)
88240- Cryopreservation (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HLHGP | HLH Gene Panel | 99971-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619831 | Test Description | 62364-5 |
| 619832 | Specimen | 31208-2 |
| 619833 | Source | 31208-2 |
| 619834 | Result Summary | 50397-9 |
| 619835 | Result | 82939-0 |
| 619836 | Interpretation | 69047-9 |
| 619837 | Additional Results | 82939-0 |
| 619838 | Resources | 99622-3 |
| 619839 | Additional Information | 48767-8 |
| 619840 | Method | 85069-3 |
| 619841 | Genes Analyzed | 82939-0 |
| 619842 | Disclaimer | 62364-5 |
| 619843 | Released By | 18771-6 |