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Test 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)

2. Viral Susceptibility, Lymphoproliferation, and Hemophagocytic Lymphohistiocytosis Patient Information

Secondary ID

620624

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

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Method Description

Next-generation sequencing (NGS) is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 20X. Sensitivity is estimated at above 99% for single nucleotide variants and above 94% for deletions-insertions (delins) less than 40 base pairs.

 

There may be regions of genes that cannot be effectively evaluated by sequencing as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of NGS results by Sanger sequencing is typically not performed for this test.(Unpublished Mayo method)

 

Genes analyzed: ADA, AP3B1, AP3D1, BLOC1S6, CD27, CD70, CDC42, CORO1A, CTPS1, IFNAR2, ITK, LYST, MAGT1, MVK, NLRC4, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, and XIAP

Day(s) Performed

Varies

Report Available

28 to 42 days

Specimen Retention Time

FFPE tissue block: Client provided paraffin blocks (FFPE) will be returned to client after testing is complete; Extracted DNA: 3 months.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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