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Order 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.



Specimen Required


Specimen Type: Tissue (FFPE)

Container/Tube: 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 or submit the Informed Consent for Genetic Testing for Deceased Individuals (T782).

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

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

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide variants and deletions-insertions (delins) 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. See Method Description for additional details.

 

Identification of a disease-causing variant may assist with familial risk assessment, screening, and genetic counseling for primary hemophagocytic lymphohistiocytosis.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Reporting Name

Postmortem HLH Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
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.

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

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