HLA High Resolution Typing (A, B, C, DR, DQ, DP) - BMT/ Stem cell Transplant Gene Panel by NGS, EDTA Blood

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Genetic HLA matching.

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HLA High Resolution Typing (A B C DR DQ DP) - BMT/Stem Cell Transplant Gene Panel by NGS EDTA Blood

Why is it done?
- Identifies Human Leukocyte Antigen (HLA) types at high resolution level to determine tissue compatibility between donor and recipient
- Essential pre-transplant evaluation for bone marrow transplant (BMT) and hematopoietic stem cell transplant (HSCT) candidates
- Assesses HLA matching between related and unrelated donors to minimize rejection and graft-versus-host disease (GVHD)
- Uses Next-Generation Sequencing (NGS) technology for precise HLA genotyping at the allele level
- Required for patients with hematologic malignancies, aplastic anemia, severe immunodeficiencies, or inherited disorders
- Performed on both transplant candidate and potential donors (related and unrelated registry donors)
- Typically ordered during initial transplant workup and evaluation phase
Normal Range
- This test does not have numeric reference ranges. Results report the specific HLA alleles present for each locus tested
- HLA Loci Tested:
  - Class I: HLA-A, HLA-B, HLA-C (present on all nucleated cells)
  - Class II: HLA-DR, HLA-DQ, HLA-DP (present on antigen-presenting cells)
- Each individual inherits two alleles per locus (one from each parent). Results display both maternal and paternal alleles
- High-resolution typing provides allele designation to the 4-digit or higher level (e.g., A*02:01:01:01)
- Interpretation focuses on HLA compatibility between donor-recipient pairs, with matching defined as:
  - 10/10 or 12/12 match: Perfect or near-perfect allele matching at all loci
  - Partial match: Some HLA incompatibility present (increased GVHD and graft failure risk)
Interpretation
- Complete HLA Profile Result:
  - Report lists all detected HLA alleles at high-resolution level for transplant compatibility assessment
- Donor-Recipient Matching Analysis:
  - 10/10 Match (HLA-A, B, C, DR, DQ - all matched): Optimal outcome with lowest GVHD and graft failure rates
  - 9/10 Match (one allele mismatch): Increased risk of GVHD and graft failure compared to 10/10
  - 8/10 or Lower Match (multiple mismatches): Significantly increased transplant complications
  - 12/12 Match (includes HLA-DP locus): Most comprehensive matching assessment available
- Factors Affecting Interpretation:
  - Direction of mismatch (donor-to-recipient vs. recipient-to-donor) affects clinical risk
  - Class I vs. Class II mismatches have different clinical implications
  - Rare alleles or novel HLA types may require additional confirmatory testing
  - Recipient's prior transfusions or pregnancies may induce anti-HLA alloantibodies affecting transplant success
- Clinical Significance:
  - Identifies optimal donor for transplantation, potentially affecting treatment decisions and transplant timing
  - Informs intensity of immunosuppressive therapy and GVHD prophylaxis protocols
  - Enables risk stratification and patient counseling regarding transplant outcomes
Associated Organs
- Primary Organ System - Hematologic and Immune System:
  - Bone marrow (source of hematopoietic stem cells)
  - Immune cells (T cells, B cells, natural killer cells)
  - Lymphoid tissues (lymph nodes, spleen, thymus)
- Diseases/Conditions Associated with Transplantation:
  - Hematologic malignancies: Acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic myeloid leukemia (CML), lymphomas
  - Bone marrow failure syndromes: Aplastic anemia, myelodysplastic syndromes (MDS)
  - Immunodeficiencies: Severe combined immunodeficiency (SCID), ataxia-telangiectasia
  - Inherited metabolic and genetic disorders: Hurler syndrome, globin gene disorders (thalassemia major, sickle cell disease)
  - Autoimmune diseases: Refractory systemic lupus erythematosus, severe multiple sclerosis
- Complications Related to HLA Mismatching:
  - Graft-versus-host disease (GVHD): Donor immune cells attack recipient tissues; acute (days 10-100) or chronic (months to years)
  - Graft failure/rejection: Recipient immune system rejects donor cells, leading to transplant failure
  - Opportunistic infections: Due to immunosuppression needed for HLA incompatibility management
  - Secondary malignancies: Increased risk with greater immunosuppression
  - Mortality: HLA mismatching significantly increases transplant-related mortality
Follow-up Tests
- Complementary Pre-Transplant Assessments:
  - HLA Antibody Panel Reactive Antibody (PRA) testing: Identifies pre-existing donor-specific antibodies (DSA) that may cause hyperacute rejection
  - HLA crossmatching (complement-dependent cytotoxicity or flow cytometry): Direct assessment of donor-recipient compatibility
  - ABO and Rh blood typing: Determines blood group compatibility
  - Complete blood count (CBC): Baseline hematologic status assessment
  - Comprehensive metabolic panel: Renal, hepatic, and electrolyte function
  - Infectious disease serology: CMV, EBV, HSV, HIV, hepatitis B/C, syphilis, tuberculosis
- Post-Transplant Monitoring Tests:
  - Chimerism analysis: Determines percentage of donor versus recipient cells; monitored during first 100 days
  - Donor-specific antibody (DSA) monitoring: Assesses development of anti-HLA alloantibodies post-transplant
  - Peripheral blood counts and differentials: Monitor engraftment and hematopoietic recovery
  - Immunophenotyping (flow cytometry): Assess immune reconstitution and lymphocyte subset recovery
  - Molecular minimal residual disease (MRD): For malignancy monitoring in leukemia/lymphoma patients
- GVHD and Rejection Monitoring:
  - Clinical assessment and tissue biopsies: Diagnosis and grading of acute and chronic GVHD
  - Biomarker assays: For GVHD prediction and monitoring (sST2, REG3α, others)
- Monitoring Frequency:
  - Day +7, +14, +21, +28, +60, +100, and beyond depending on clinical status and complications
  - More frequent monitoring for HLA-mismatched recipients
  - Long-term follow-up: Years 1-2 and beyond for chronic GVHD surveillance
Fasting Required?
- No - Fasting is not required for this test.
- This is a genomic test analyzing HLA genes and is not affected by food or fluid intake
- Specimen Collection:
  - EDTA (ethylenediaminetetraacetic acid) anticoagulant blood collection tube required (lavender-top tube)
  - Standard venipuncture with appropriate tube mixing per laboratory protocol
- Patient Preparation Instructions:
  - No special fasting required; patient may eat and drink normally
  - No specific medications need to be held; HLA typing is not affected by medications
  - Recent transfusions should be reported to laboratory as they may contain donor DNA affecting results
  - Inform laboratory of any recent bone marrow or stem cell transplants, as recipient DNA may be mixed with donor DNA
- Sample Stability and Handling:
  - Specimen should be processed within 72 hours of collection
  - Store at room temperature or refrigerated per laboratory specifications
  - Do not freeze specimen unless instructed by laboratory

How our test process works!