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HelpTest Code 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.
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 |
Specimen 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 | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 months; Cultured fibroblasts, skin biopsy: 1 monthPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81443
88233- Tissue culture, skin, solid tissue biopsy (if appropriate)
88240- Cryopreservation (if appropriate)