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HelpTest Code PMHLH Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Ordering Guidance
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 HLHGP / Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies.
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.
Specimen Required
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block
Additional Information: Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.
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)
-Informed Consent for Genetic Testing for Deceased Individuals (T782)
Useful For
Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis
Identifying a disease-causing variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS)
Reporting Name
Postmortem HLH Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
2. Gadoury-Levesque V, Dong L, Su R, et al. Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Adv. 2020;4(12):2578-2594. doi:10.1182/bloodadvances.2020001605
3. Canna SW, Marsh RA. Pediatric hemophagocytic lymphohistiocytosis. Blood. 2020;135(16):1332-1343. doi:10.1182/blood.2019000936
4. Ponnatt TS, Lilley CM, Mirza KM. Hemophagocytic lymphohistiocytosis. Arch Pathol Lab Med. 2022;146(4):507-519. doi:10.5858/arpa.2020-0802-RA
5. Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2022 Update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-1507. doi:10.1007/s10875-022-01289-3
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
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PMHLH | Postmortem HLH Gene Panel | 99971-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 620625 | Test Description | 62364-5 |
| 620626 | Specimen | 31208-2 |
| 620627 | Source | 31208-2 |
| 620628 | Result Summary | 50397-9 |
| 620629 | Result | 82939-0 |
| 620630 | Interpretation | 69047-9 |
| 620631 | Additional Results | 82939-0 |
| 620632 | Resources | 99622-3 |
| 620633 | Additional Information | 48767-8 |
| 620634 | Method | 85069-3 |
| 620635 | Genes Analyzed | 82939-0 |
| 620636 | Disclaimer | 62364-5 |
| 620637 | Released By | 18771-6 |