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HLA B27 studies (PCR)-Qualitative

Immunity
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Report in 12Hrs

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No Fasting Required

Details

HLA-B27 is not a disease but is strongly associated with autoimmune disorders, especially seronegative spondyloarthropathies.

₹2,599₹3,975

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HLA B27 Studies (PCR)-Qualitative

  • Why is it done?
    • Test Purpose: Detects the presence or absence of Human Leukocyte Antigen B27 (HLA-B27) using polymerase chain reaction (PCR) technology; provides a qualitative result (positive or negative)
    • Primary Indications: Suspected ankylosing spondylitis, reactive arthritis, psoriatic arthritis, and other seronegative spondyloarthropathies
    • Clinical Suspicion: Chronic back pain with inflammatory characteristics, eye inflammation (uveitis), inflammatory bowel disease with arthralgias, or unexplained peripheral arthritis
    • Genetic Predisposition Assessment: Family history of HLA-B27 associated diseases or screening of first-degree relatives
    • Timing: Typically ordered during initial diagnostic workup when spondyloarthropathy is suspected; does not require repeated testing as HLA status remains constant throughout life
  • Normal Range
    • Normal Result: NEGATIVE or ABSENT; indicates no HLA-B27 allele detected
    • Abnormal Result: POSITIVE or PRESENT; indicates HLA-B27 allele detected
    • Units: Qualitative (Yes/No, Present/Absent, or Positive/Negative); no numerical values
    • Population Frequency: Approximately 6-8% of the general population carries HLA-B27; varies by ethnicity (higher in Northern Europeans and Scandinavians, lower in African and Asian populations)
    • Interpretation: Normal (Negative) means person does not carry HLA-B27 and has very low risk for HLA-B27 associated spondyloarthropathies; Abnormal (Positive) indicates carrier status but does NOT diagnose disease (only 5-10% of HLA-B27 positive individuals develop spondyloarthropathy)
  • Interpretation
    • Positive HLA-B27 Result: Individual carries the HLA-B27 allele; significantly increased genetic predisposition to develop spondyloarthropathies; 90% of ankylosing spondylitis patients are HLA-B27 positive; strongly associated with reactive arthritis and other seronegative spondyloarthropathies; presence alone does not confirm diagnosis without clinical and radiological findings
    • Negative HLA-B27 Result: Individual does not carry HLA-B27 allele; markedly decreased risk for typical HLA-B27 associated spondyloarthropathies; does not completely exclude disease (10% of ankylosing spondylitis cases are HLA-B27 negative); helps rule out seronegative spondyloarthropathy as primary diagnosis
    • Clinical Correlation Required: HLA-B27 testing should not be used as a screening test in asymptomatic populations; must be interpreted with clinical presentation, imaging findings (MRI/CT), inflammatory markers (ESR, CRP), and other laboratory results
    • Factors Affecting Results: Genetic factors determine HLA-B27 status from birth; ethnicity influences prevalence; results remain constant throughout life and are not affected by disease activity, medications, or lifestyle factors
    • Clinical Significance: Diagnostic utility highest when combined with clinical symptoms and other findings; serves as marker of genetic susceptibility rather than definitive diagnostic test; negative result in symptomatic patient should prompt consideration of alternative diagnoses or HLA-B27 negative disease variants
  • Associated Organs
    • Primary Organ Systems: Axial skeleton (spine, sacroiliac joints), peripheral joints (knees, hips, ankles), immune system
    • Associated Diseases: Ankylosing spondylitis (AS) - chronic inflammatory arthritis affecting spine; Reactive arthritis (formerly Reiter's syndrome); Psoriatic arthritis; Enteropathic arthritis (associated with inflammatory bowel disease); Undifferentiated spondyloarthropathy
    • Ocular Manifestations: Anterior uveitis (eye inflammation); iritis; conjunctivitis
    • Gastrointestinal Involvement: Inflammatory bowel disease (Crohn's disease, ulcerative colitis) frequently associated with HLA-B27; increased risk of arthritis in IBD patients
    • Cardiovascular Complications: Aortic insufficiency; aortic root dilatation (in advanced AS); cardiac conduction abnormalities; increased cardiovascular mortality risk
    • Pulmonary Involvement: Upper lobe pulmonary fibrosis; reduced pulmonary function; increased risk of tuberculosis (particularly with TNF inhibitor therapy)
    • Skin and Mucosal Sites: Psoriasis (30-40% of HLA-B27 positive patients with psoriasis develop psoriatic arthritis); oral ulcers; nail changes
    • Potential Complications: Spinal fusion and ankylosis leading to reduced mobility; chronic pain and disability; visual impairment from uveitis; quality of life limitations; depression and anxiety secondary to chronic disease
  • Follow-up Tests
    • If HLA-B27 Positive with Clinical Suspicion: Inflammatory markers - Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) to assess inflammatory activity
    • Imaging studies - X-rays of sacroiliac joints and pelvis to detect characteristic changes of AS; MRI of spine for early inflammatory changes; CT imaging if advanced disease suspected
    • Rheumatology panel - Rheumatoid factor (RF), Anti-cyclic citrullinated peptide (Anti-CCP), Antinuclear antibodies (ANA) to exclude other autoimmune conditions
    • Infectious serology - If reactive arthritis suspected, testing for Chlamydia, Yersinia, Salmonella, Shigella, Klebsiella, and urogenital pathogens
    • If HLA-B27 Negative with Clinical Suspicion: Alternative diagnoses workup including complete metabolic panel, liver function tests, and tissue biopsy if indicated
    • HLA-B27 negative seronegative spondyloarthropathy testing using other genetic markers when applicable
    • For Established Diagnosis Follow-up: ESR and CRP every 3-6 months to monitor disease activity and treatment response
    • Imaging surveillance - Periodic X-rays or MRI (typically annually or as clinically indicated) to assess disease progression
    • Ophthalmologic examination - Regular assessment for uveitis, especially if history of eye inflammation; baseline and periodic comprehensive eye exams
    • Cardiac monitoring - Baseline electrocardiogram and echocardiogram; periodic reassessment if advanced disease or new cardiac symptoms
    • Pulmonary function testing - If respiratory symptoms present or on TNF inhibitor therapy; baseline and serial assessments
    • Bone mineral density assessment - DEXA scan to screen for osteoporosis and monitor progression
    • Related Complementary Tests: HLA-B7, HLA-B60, and other HLA allele testing in complex diagnostic scenarios; genetic counseling for family members with positive HLA-B27 results
  • Fasting Required?
    • Fasting Requirement: NO - Fasting is not required for HLA-B27 testing
    • Sample Collection: Blood sample drawn via venipuncture into ethylenediaminetetraacetic acid (EDTA) tube or appropriate tube as specified by laboratory; typically 3-5 mL
    • Medications: No medications need to be avoided; continue all routine medications including immunosuppressants, NSAIDs, corticosteroids, and biologic agents as prescribed; medication use does not affect HLA-B27 status determination
    • Patient Preparation: No special preparation required; patient may eat and drink normally before test; can be collected at any time of day
    • Special Instructions: Inform phlebotomist of any bleeding disorders or anticoagulant use; apply pressure to venipuncture site for a few minutes; no arm exercises or heavy lifting for several hours after blood draw
    • Sample Stability: Blood samples should be delivered to laboratory within 24-48 hours; store at room temperature or refrigerate according to laboratory specifications
    • Turnaround Time: Results typically available within 3-7 business days; may vary by laboratory and testing methodology

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