Autoimmune disease test

Autoimmune Disease Testing Service – Accredited Autoantibody Detection and Serological Evaluation for Global Markets

Our internationally accredited laboratory provides a comprehensive autoimmune disease testing service that supplies rheumatologists, gastroenterologists, endocrinologists, clinical immunologists and diagnostic manufacturers worldwide with the independent, traceable serological data they need to diagnose, monitor and manage a broad spectrum of autoimmune disorders. Every assay is conducted under the rigorous framework of ISO/IEC 17025, and each report bearing the ILAC mark is unconditionally accepted by regulatory authorities, notified bodies and supply‑chain partners in all major economies. The autoimmune disease test programme employs a multi‑tiered testing strategy that combines the screening power of the indirect immunofluorescence assay on HEp‑2 cells and the tissue sections, the specificity of the confirmatory enzyme‑linked immunosorbent assays, the multiplexing capability of the addressable‑laser‑bead immunoassays, and the high‑resolution of the immunoblot and the line‑blot techniques. For a rheumatologist differentiating systemic lupus erythematosus from mixed connective‑tissue disease, a gastroenterologist screening for the coeliac‑disease‑specific antibodies, or a neurologist investigating a suspected paraneoplastic syndrome, this service delivers the legally robust, defensible autoantibody profiles that underpin the early diagnosis, the treatment‑decision and the compliance with the relevant international clinical guidelines and the IVD regulatory standards.

Product Samples We Regularly Subject to Autoimmune Disease Testing

The sample‑receipt, centrifugation, aliquoting and long‑term cryopreservation facilities in our laboratory accommodate a vast variety of human biological matrices. The following categories represent the most frequently tested specimens:

• Human serum and plasma – the venous blood collected into the serum‑separator or the EDTA tubes from the outpatient clinics, the hospital wards and the clinical‑trial sites
• Cerebrospinal fluid – the matched serum/CSF pairs that are essential for the calculation of the intrathecal immunoglobulin synthesis and the oligoclonal‑band analysis in the neuroinflammatory diseases
• Synovial fluid and the pleural effusions – the samples from the inflamed joints and the body cavities, analysed for the local autoantibody production and the immune‑complex deposition
• Biopsy extracts and the tissue homogenates – the eluates from the fresh‑frozen or the formalin‑fixed tissue sections, used for the direct detection of the tissue‑bound immunoglobulins and the complement components
• Dried‑blood‑spot and the finger‑prick capillary samples – the samples that are collected in the remote, the resource‑limited or the home‑testing settings and that are eluted for the autoantibody screening

Antinuclear Antibody (ANA) Screening by Indirect Immunofluorescence – The Cornerstone of the Autoimmune Disease Test

• Detection and the semi‑quantitative titration of the antinuclear antibodies by the indirect immunofluorescence assay on the HEp‑2 cell substrate according to the internal validated protocol and the recommendations of the International Consensus on ANA Patterns: the patient serum is serially diluted and incubated on the HEp‑2 slides, and the bound IgG antibodies are visualised with a fluorescein‑isothiocyanate‑conjugated anti‑human IgG. The pattern of the nuclear and the cytoplasmic staining – homogeneous, speckled, nucleolar, centromere, nuclear‑dot, cytoplasmic‑speckled and the mitotic‑spindle patterns – is read by a board‑certified clinical immunologist at the defined screening dilution, and the endpoint titre is reported. A positive ANA at a titre of ≥ 1:160 is the entry criterion for the further sub‑serology testing and, in the appropriate clinical context, supports the diagnosis of the systemic autoimmune rheumatic diseases. This autoimmune disease test remains the gold‑standard screening assay that is recommended by the American College of Rheumatology and the European League Against Rheumatism.
• Computer‑aided immunofluorescence microscopy and the pattern‑recognition algorithms: the HEp‑2 images are acquired on an automated microscope and analysed by a validated machine‑learning software that classifies the staining pattern and the titre, providing the objective, standardised and reproducible ANA reading that reduces the inter‑observer variability and the laboratory‑to‑laboratory discrepancy.
• Crithidia luciliae anti‑dsDNA confirmatory assay: the ANA‑positive sera are tested on the Crithidia luciliae kinetoplast substrate, and the specific, high‑avidity anti‑double‑stranded‑DNA antibodies are detected, which are the highly specific marker for the systemic lupus erythematosus and which correlate with the disease activity and the renal involvement.
• Extractable Nuclear Antigen (ENA) profile by the multiplex addressable‑laser‑bead immunoassay and the line‑blot: the antibodies to the individual extractable nuclear antigens – the Smith (Sm), the U1‑RNP, the Ro52/SS‑A, the Ro60/SS‑A, the La/SS‑B, the Scl‑70 (topoisomerase I) and the Jo‑1 (histidyl‑tRNA synthetase) – are simultaneously quantified, and the autoantibody profile is reported, enabling the precise subclassification of the systemic lupus erythematosus, the Sjögren’s syndrome, the systemic sclerosis and the idiopathic inflammatory myopathies.

Rheumatoid Arthritis, Antiphospholipid Syndrome and the Organ‑Specific Autoimmune Disease Markers – Autoimmune Disease Test for the Definitive Serological Diagnosis

• Determination of the rheumatoid factor and the anti‑cyclic‑citrullinated‑peptide (anti‑CCP) antibodies by the enzyme‑linked immunosorbent assay or the electrochemiluminescence immunoassay according to the internal validated protocols and the ACR/EULAR classification criteria: the IgM‑rheumatoid factor and the IgG anti‑CCP antibodies are measured, and the sensitivity, the specificity and the positive‑predictive value for the rheumatoid arthritis are reported. The presence of the high‑titre anti‑CCP antibodies, together with the compatible clinical synovitis, confirms the diagnosis of the rheumatoid arthritis and predicts the erosive, aggressive disease course that requires the early, intensive disease‑modifying therapy.
• Detection of the antiphospholipid antibodies – the lupus anticoagulant, the anticardiolipin and the anti‑β₂‑glycoprotein I: the lupus anticoagulant is detected by the dilute‑Russell‑viper‑venom time and the silica‑clotting‑time assays, and the IgG and the IgM anticardiolipin and the anti‑β₂‑glycoprotein I antibodies are measured by the standardised ELISA, providing the laboratory criteria for the definite antiphospholipid syndrome according to the Sydney classification.
• Coeliac‑disease serology – the anti‑tissue‑transglutaminase and the anti‑endomysial antibodies: the IgA anti‑tissue‑transglutaminase antibody is measured by the ELISA, and the positive sera are confirmed by the indirect immunofluorescence on the primate‑oesophagus sections for the endomysial antibody, which remains the reference method for the coeliac‑disease diagnosis in the paediatric population and the challenging cases.
• Autoimmune liver‑disease panel – the anti‑mitochondrial M2, the anti‑smooth‑muscle and the anti‑liver‑kidney‑microsomal antibodies: the primary biliary cholangitis, the autoimmune hepatitis and the overlap syndromes are differentiated by the comprehensive autoantibody profiling that guides the immunosuppressive therapy and the transplant‑risk assessment.
• Thyroid autoimmunity – the anti‑thyroperoxidase and the anti‑thyroglobulin antibodies: the high‑sensitivity immunoassays detect the thyroid‑specific autoantibodies that are the hallmark of the Hashimoto’s thyroiditis and the Graves’ disease, and the results are correlated with the thyroid‑function tests and the ultrasound findings.

Quality Assurance, External Proficiency Testing and the Reporting of the Autoimmune Disease Test

• Participation in the international external‑quality‑assessment schemes and the measurement of the reference‑standard materials: our laboratory participates in the proficiency‑testing programmes of the College of American Pathologists, the United Kingdom National External Quality Assessment Service and the European Consensus Lupus Project, and the performance scores are publicly available, demonstrating the accuracy and the comparability of the autoantibody measurements.
• Standardisation against the international reference preparations and the harmonisation of the reporting units: the assays are calibrated against the World Health Organisation international standards and the certified reference materials, and the results are reported in the harmonised international units per millilitre, enabling the longitudinal monitoring of the autoantibody concentration and the exchange of the data between the different healthcare providers.
• Interpretative comments and the clinical‑decision‑support integration: each report includes the laboratory‑medicine specialist’s interpretative comment that integrates the serological profile with the clinical information, and the data are delivered in the structured, Health Level 7‑compatible format for the seamless integration into the electronic health record and the clinical‑decision‑support systems.

Report Acceptance and Global Regulatory Compliance

All autoimmune disease tests are performed under the fully accredited scope of our ISO/IEC 17025 quality management system. Each report that carries the ILAC mark is therefore automatically recognised by regulatory authorities, notified bodies, customs offices and supply‑chain partners in all major economies. For rheumatologists, gastroenterologists, endocrinologists and clinical‑laboratory directors anywhere in the world, the report constitutes legally robust, internationally accepted evidence that the antinuclear antibody titre, the autoantibody profile, the antiphospholipid‑syndrome markers and the organ‑specific autoantibodies have been determined in accordance with the applicable ACR, EULAR, ESLR, ISP and customer‑specified guidelines. The documentation can be directly used to support the clinical diagnosis, the therapeutic‑monitoring decision, the CE marking of the in‑vitro‑diagnostic assay, the issue of inspection certificates according to EN 10204 or equivalent national standards, and the resolution of commercial and technical disputes concerning the serological evidence of any autoimmune condition.