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Test ID: EBLPD Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies


Ordering Guidance


For inborn errors of immunity causing susceptibility to viruses other than the Epstein-Barr virus (EBV), see VIRID / Viral Susceptibility, Defects in Intrinsic and Innate Immunity, 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.



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.


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)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)

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

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease

 

Establishing a diagnosis of a hereditary form of EBV susceptibility or a related disorder, allowing for appropriate management and surveillance for disease features based on the gene or variant involved

 

Identifying variants within genes known to be associated with heritable EBV susceptibility and/or lymphoproliferative disease, allowing for predictive testing of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with Epstein-Barr virus (EBV) susceptibility and lymphoproliferative disorders: ATM, CARD11, CARMIL2, CD27, CD70, CORO1A, CTLA4, CTPS1, DEF6, GATA2, ITK, LRBA, MAGT1, PIK3CD, PRF1, PRKCD, RASGRP1, SH2D1A, STK4, STX11, STXBP2, TET2, TNFRSF9, UNC13D, and XIAP. See Targeted Genes and Methodology Details for Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders 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 EBV susceptibility and a heritable predisposition to lymphoproliferative disorders.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

EBV/Lymphoproliferation GenePanel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Skin biopsy or cultured fibroblasts: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Epstein-Barr virus (EBV) is a ubiquitous virus, and over 90% of adults have been infected by, and now carry, the virus. While infection is often asymptomatic in children, it may cause infectious mononucleosis in older children and adults. Additionally, EBV has been associated with multiple cancer types. The majority of healthy individuals control EBV in a latent state through the action of natural killer (NK) cells and T cells. Individuals with inborn errors of immunity may experience severe and fatal consequences of EBV infection, including severe infectious mononucleosis, lymphoproliferation, hemophagocytic lymphohistiocytosis (HLH), and lymphoma.

 

The inborn errors of immunity that contribute to susceptibility to EBV infection can follow several mechanisms. In one group, genetic variants may result in EBV-induced HLH and a lack of NK and CD8+ T-cell cytotoxicity due to issues with the cytotoxic granules. Another group is characterized by impaired activation and expansion of T cells that specifically target EBV and may be due to genetic variants in genes involved in T-cell receptor signaling, DNA metabolism and synthesis, or the costimulatory receptors of the tumor necrosis factor-receptor superfamily. In general, disease-causing variants in SH2D1A, CD27, CD70, and TNFRSF9 may result in a more selective predisposition to EBV infection, while other defects may result in broader viral susceptibility.

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; ACMG Laboratory Quality Assurance Committee: 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 May;17(5):405-424

2. Tangye SG: Genetic susceptibility to EBV infection: insights from inborn errors of immunity. Hum Genet. 2020 Jun;139(6-7):885-901

3. Fournier B and Latour S: Immunity to EBV as revealed by immunedeficiencies. Curr Opin Immunol. 2021 Oct;72:107-115

4. Ravell JC, Chauvin SD, He T, Lenardo M: An update on XMEN disease. J Clin Immunol. 2020 Jul;40(5):671-681

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 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3

Day(s) Performed

Varies

Report Available

28 to 42 days

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

88233-Tissue culture, skin, solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
EBLPD EBV/Lymphoproliferation GenePanel 103739-9

 

Result ID Test Result Name Result LOINC Value
619789 Test Description 62364-5
619790 Specimen 31208-2
619791 Source 31208-2
619792 Result Summary 50397-9
619793 Result 82939-0
619794 Interpretation 69047-9
619795 Additional Results 82939-0
619796 Resources 99622-3
619797 Additional Information 48767-8
619798 Method 85069-3
619799 Genes Analyzed 82939-0
619800 Disclaimer 62364-5
619801 Released By 18771-6
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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