Diagnostics

We help patients and clinicians find answers.

Protein biomarker analysis

Creutzfeldt-Jakob disease (CJD) via CSF

As Belgium’s national reference service for suspected Creutzfeldt-Jakob disease (in collaboration with Sciensano), we provide diagnostic support through protein biomarker analysis. Standardized pre-analytical procedures and validated laboratory methods ensure reliable results. Reports are designed to be clear and clinically actionable, helping guide patient care and further investigation.

https://labogids.uza.be/analyses/creutzfeldt-jakob-ziekte-van-14-3-3-screening-csv-nrc
Neurodegenerative A/T/N profiling for Alzheimer’s disease via CSF

We offer biomarker-based A/T/N profiling to support the differential diagnosis of Alzheimer’s disease. Measurements include t-Tau, pTau181, and Aβ42/40 in cerebrospinal fluid. Results are reported according to current diagnostic frameworks and can be applied both in clinical practice and in research cohorts. This profiling provides a validated approach to confirm or rule out Alzheimer’s pathology.

https://labogids.uza.be/analyses/alzheimer-ziekte-van-atn-profilering-csv
Alzheimer’s disease probability assessment via EDTA Plasma

Our probability assessment test uses pTau217 in blood (EDTA plasma) to detect early signs of Alzheimer's-related changes. It is suitable only when there is a clinical suspicion of Alzheimer's disease, based on objective cognitive deficits. While less invasive than a spinal tap, results must be confirmed by the established CSF A/T/N profile. Kidney function and body weight (BMI) can influence the outcome. The test is for research use only (RUO) and is awaiting CE-IVD approval.

https://labogids.uza.be/analyses/alzheimer-ziekte-van-probabiliteitsbepaling-edta-plasma

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Neuromuscular disorders and malignant hyperthermia

We support clinicians in the diagnosis of neuromuscular disorders through specialized analysis of muscle biopsies (and, when indicated, nerve biopsies). Using histoenzymology and complementary techniques — and, in selected cases, electron microscopy — we help identify and differentiate muscle diseases such as inflammatory myopathies, neurogenic abnormalities, dystrophies and (mitochondrial) metabolic disorders. All analyses are initiated upon receipt of a fully completed request form that includes the relevant clinical context and the patient’s informed consent. This ensures that interpretation is optimally aligned with the neurologist or rheumatologist's question.

We also provide diagnostic support in cases of suspected malignant hyperthermia (MH). When MH is considered in the differential diagnosis, or when there is known or suspected susceptibility, an in vitro contracture test (IVCT) can be performed on a muscle biopsy. This functional test involves exposure to anesthetic triggers and supports clinical risk assessment in the context of anesthesia.

In certain cases, the diagnostic work-up requires specialized investigations that we do not perform in-house. Therefore, we collegially refer to UZ Ghent for respiratory chain enzyme analysis on muscle tissue , and to UZ Brussels (CMG) for mitochondrial genetic testing on muscle tissue.

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All forms EN/NL/FR

Autopsy & neurobiomaterial collection for neurodegenerative disease research

Post-mortem brain examination is the gold standard for diagnosing many neurodegenerative diseases. At IBB, our neuropathology team, in collaboration with UZA’s anatomo-pathology department, performs detailed autopsies that include the collection of diverse biomaterials such as brain, spinal cord, skin, muscle, nerve, and other relevant tissues. These samples are preserved in both fixed and frozen formats, carefully examined macroscopically and microscopically, and further analyzed with immunohistochemical markers like tau, amyloid-beta, TDP-43, and alpha-synuclein. The outcomes provide diagnostic confirmation, support research validation, and deliver feedback to clinical teams and families.

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FAQ donor donation

All forms EN/NL/FR

Genetic analysis (via UZA CMG)

When genetic testing is indicated, we coordinate through the UZA Center for Medical Genetics. Available panels include early-onset dementia and related neurodegeneration, covering key genes such as APP, PSEN1, PSEN2, MAPT, GRN, PRNP, CSF1R, TBK1, TREM2, VCP, TARDBP and more, plus C9ORF72 repeat expansion on request. Results are integrated with biomarker and pathology data for a unified report.

UZA CMG genetic testing forms (only available in Dutch)

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Diagnostics

Protein biomarker analysis

Downloads

Neuromuscular disorders and malignant hyperthermia

Downloads

Autopsy & neurobiomaterial collection for neurodegenerative disease research

Downloads

Genetic analysis (via UZA CMG)

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