Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Use
This test is used for providing a comprehensive postmortem genetic evaluation in cases of death attributed to primary hemophagocytic lymphohistiocytosis (HLH). It is especially useful for identifying disease-causing variants in the decedent, which may aid in risk assessment and predictive testing of at-risk family members. The disorder is characterized by symptoms such as fever, cytopenias, hepatosplenomegaly, and neurologic issues. The test helps in detecting single nucleotide variants and deletions-insertions in 23 genes associated with HLH, thus facilitating familial risk assessment, screening, and genetic counseling.
Special Instructions
This test is intended for use when whole blood is not available, and formalin-fixed, paraffin-embedded (FFPE) tissue is the only available specimen. If whole blood is available, consider using the HLHGP / Primary Hemophagocytic Lymphohistiocytosis Gene Panel. Informed consent is required for New York clients, and DNA extraction may be canceled if adequate concentration cannot be obtained from aged tissue blocks.
Limitations
Next-generation sequencing (NGS) used in this test may not detect all genomic variants, particularly in regions of homology, high GC content, and repetitive sequences. Variants larger than 40 base pairs may be less reliably detected. The test cannot reliably detect low levels of mosaicism or differentiate between somatic mutations and germline variants. Deletion/duplication analysis is not performed due to limitations with FFPE specimens. Negative results do not rule out genetic disorders, and it's not standard to confirm NGS results by Sanger sequencing for this test.
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
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block. Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.