Diagnosis

Excluding or confirming a disease

Good care starts with making a good diagnosis. What disease does someone have or not have? Only a correct diagnosis can lead to the right treatment choices. In the case of acute heart complaints, for example, laboratory tests (troponin determination) can be used to check whether it is a heart attack or not. This allows for quick and adequate treatment.

Below are examples of the added value of laboratory testing for diagnosis:

Cardiovascular

• Heart attack

  CK-MB test

  Creatine kinase (CK) is an enzyme that plays an important role in cellular energy supply in the heart, brain, and muscles. CK-MB is a form of an enzyme primarily found in heart muscle. It is released when heart tissue is damaged. In an acute heart attack, CK-MB becomes measurable in the blood after three to six hours. Peak values are reached after twelve to twenty hours. After that, values return to normal. The CK-MB test is less specific than the troponin test.

  Troponin test

  Troponin is a protein that normally enables heart muscle contraction. When the heart and heart tissue are healthy, blood troponin levels are low. During a heart attack, troponin is released. This becomes measurable in the blood after three hours and remains elevated for two weeks after the heart attack. The troponin test is used to diagnose heart attacks in people who arrive at Emergency Cardiac Care (ECC) with chest pain. However, only about twenty percent of these patients actually have a heart attack. To prevent unnecessary ECC referrals, the test is now available as a high-sensitivity troponin point-of-care test. This highly sensitive test can determine troponin levels at the patient's location. Combined with a risk score, the healthcare provider can immediately decide whether someone with chest pain needs to be admitted.

• Heart failure

  BNP and NT-proBNP

  When the heart muscle experiences increased stress, BNP (Brain-type Natriuretic Peptide) is released from heart muscle cells. BNP causes blood vessels to dilate, reducing the heart strain. Along with BNP, the physiologically inactive byproduct NT-proBNP is also released. Blood levels of both compounds provide insight into heart failure (severity). Because multiple causes can lead to elevated BNP and NT-proBNP, this test's strength lies primarily in ruling out heart failure when there is strong clinical suspicion of the condition. The test is also suitable for following up medication effects (monitoring) and estimating heart failure risk (prognosis).

• Thrombosis

  D-dimer test

  Diagnosing thrombosis can be challenging. Along with ultrasound and imaging diagnostics, blood testing plays a complementary role through the D-dimer test. D-dimers are released during blood clot breakdown. When these compounds are detected in the blood, it indicates the presence (current or recent) of a clot. The D-dimer test is quick and simple but not specific. A positive result requires follow-up testing to confirm venous thromboembolism (VTE); a negative result can rule out VTE. With a point-of-care D-dimer test, primary care physicians can rule out VTE when thrombosis is suspected.

Cancer

• Prostate cancer

  Prostate Health Index (PHI)

  PSA exists in blood in both free and bound forms, along with various PSA precursors. The prostate health index (PHI test) combines test results of three different isoforms: total PSA, free PSA, and [-2]proPSA. The quotient of [-2]proPSA and free PSA multiplied by the square root of total PSA yields the PHI index. This combination test is three times more sensitive than a PSA test alone and is thus a more reliable predictor of prostate cancer.

• Bladder cancer

  FISH-test

  The molecular cytological test detects bladder cancer cells in urine based on specific DNA abnormalities in these cells on chromosomes 3, 7, and 17 and absence of the 9p21 locus. The abnormalities are visualized via fluorescence in-situ hybridization (FISH). The test is used in combination with standard diagnostic procedures in bladder cancer investigation. The test detects bladder tumors in all stages and grades.

Infections

• Chlamydia and Gonorrhea

  CT/NG Test

  This diagnostic test determines if people with symptoms or suspected STI are infected with Chlamydia trachomatis (CT) or Neisseria gonorrhoeae (NG). With a confirming CT or NG diagnosis, treatment can begin within the same consultation. The CT/NG assay is a molecular test detecting CT and NG based on their DNA. This uses nucleic acid amplification testing (NAAT) combined with PCR technology. It's a fully automated method with integrated sample processing, analysis, detection, and data processing. Results are available within ninety minutes. The analyzer is also available as a point-of-care version, allowing the test to be performed during patient consultation.

• Respiratory infections

  Multiplex PCR rapid test

  Multiplex PCR technology forms the basis for syndromic diagnostics. The test is performed in a point-of-care system where diagnostics occur directly on-site, eliminating time lost to sample transport and result feedback. The throat-nasal mucus sample is placed in a cartridge inserted into the analyzer. The polymerase chain reaction multiplies several different DNA sequences of potential pathogens within one run. For respiratory infections, this involves simultaneous detection of 23 viruses and bacteria in total. This all-in-one rapid test provides immediate identification of the respiratory infection type and its causative agent. Diagnosis can be made and appropriate treatment started after just one hour.

• Sepsis

  Multiplex PCR rapid test

  Multiplex PCR technology forms the basis for rapidly testing for sepsis. The sample is placed in a cartridge inserted into the analyzer. The polymerase chain reaction multiplies several different DNA sequences of potential pathogens within one run. The test enables rapid identification of pathogen(s) including polymicrobial infections and resistance mechanisms. Especially in clinically urgent situations, like sepsis, a rapid test can be lifesaving. Based on test results, targeted treatment can begin immediately.

• Virus or bacteria

  Immune response test

  Instead of directly detecting the virus or bacteria, this test focuses on detecting the immune response to the infection. The immune response leads to production of specific proteins released into the blood. The pattern of three specific proteins (TRAIL, IP 10, and CRP) differs between viral and bacterial infections and thus forms a biomarker to differentiate between bacterial and viral infections. The test is performed in a fully automated analyzer. Based on results, physicians can immediately determine whether to treat with antiviral medication or antibiotics. This test helps prevent unnecessary and redundant antibiotic use.

• Tuberculosis

  IGRA blood test

  The Interferon Gamma Release Assay (IGRA) can detect Mycobacterium tuberculosis (MTB) in blood. The test is based on the response of MTB to MTB antigens, which leads to the release of interferon gamma. The released interferon gamma is detected using fluorescence technology.

  Key advantages of this blood test compared to the skin test (Mantoux) for detecting latent tuberculosis:

  • Standardized laboratory procedure
  • Unambiguous test results
  • No cross-reactivity with tuberculosis vaccine
  • Single patient contact (blood draw only)

• Urinary tract infection

  Rapid test for urinary tract infection including antibiotic sensitivity

  The rapid test integrates lab-on-a-chip technology, phase contrast microscopy, and an image processing algorithm into a point-of-care analyzer. This allows primary care physicians to diagnose bacterial urinary tract infection within fifteen minutes and prescribe targeted antibiotics within thirty minutes.

  The lab-on-a-chip technology enables miniaturization of microbiological laboratory testing (urine culture and antimicrobial sensitivity tests). The chip consists of thousands of nanochannels through which the urine sample is flushed directly, without preprocessing. Large cellular components are filtered and the passed bacterial cells collect in the nanochannels, where they're exposed to different types and amounts of antibiotics. Resistant bacteria continue growing, while sensitive bacteria grow poorly or not at all. Cell growth is monitored in real-time using phase contrast microscopy and images are analyzed with a smart algorithm. The analysis results in an antibiogram after thirty minutes, allowing the physician to prescribe targeted antibiotics. Treatment of the urinary tract infection can begin immediately.

Diabetes

• Diabetes

  Glucose testing

  Diabetes diagnosis is based on persistently elevated blood glucose levels. Treatment depends on severity and may include diet modification, oral medications, and/or insulin injections. Effective treatment requires crucial glucose monitoring. The acceptable range for variation is narrow, necessitating continuous (round-the-clock) monitoring. Patients can self-monitor using finger-prick glucose tests or continuous glucose monitoring sensors. Regular glucose measurements combined with appropriate interventions help maintain balanced glucose levels.

Brain

• Alzheimer's Disease

  Alzheimer's testing

  The standard approach for detecting Alzheimer's disease in biological samples is through lumbar puncture to obtain cerebrospinal fluid. The presence or absence of specific proteins such as beta-amyloid and tau can help confirm or rule out Alzheimer's disease. Since blood sampling is less invasive and simpler than lumbar puncture, researchers are actively developing blood-based tests for Alzheimer's diagnosis. A new generation of biomarkers is being developed for early detection of the disease in blood. These blood tests are currently in the research phase.

• Encephalitis

  All-in-one test

  The test utilizes multiplex PCR technology in a point-of-care system. Cerebrospinal fluid obtained through lumbar puncture is placed in a cartridge for analyzer processing. The polymerase chain reaction amplifies DNA sequences from various microorganisms in a single run. This enables simultaneous detection of fifteen potential pathogens (six viruses, eight bacteria, and one fungus). Within one hour, diagnosis can be established and appropriate treatment initiated.

• Parkinson's Disease

  Parkinson's testing

  Currently, no tests are available to detect Parkinson's disease in biological samples, but alpha-synuclein protein has been described as a potential biomarker. This protein has been detected in the cerebrospinal fluid of diagnosed patients. Clinical studies have shown its presence in the cerebrospinal fluid of individuals with symptoms suggesting early-stage disease. Other research has demonstrated that alpha-synuclein is also detectable in tear fluid. These findings offer promising prospects for developing a simple laboratory test for early Parkinson's disease detection.

Renal

• Renal function

  Creatinine blood test

  This test measures blood creatinine levels. Creatinine production depends on body height and muscle mass, resulting in typically higher values for men compared to women and children.

  Creatinine urine test

  Creatinine clearance indicates the kidneys' ability to filter blood and excrete waste products through urine. A 24-hour urine creatinine measurement provides comprehensive information about kidney function.

  Combined creatinine and cystatin C testing

  Elderly typically have lower blood creatinine levels due to reduced muscle mass. Including cystatin C measurement alongside creatinine provides more reliable kidney function assessment, particularly in elderly patients.

Rheumatic Disorders

• Rheumatoid Arthritis

  Anti-CCP test

  In rheumatoid arthritis (RA), the autoimmune response involves developing specific antibodies against citrullinated proteins. These are proteins where the amino acid arginine has been converted to citrulline. The immune system recognizes citrullinated proteins as foreign, resulting in antibody production - known as anti-citrullinated protein antibodies (ACPAs). These antibodies, highly specific for RA, are detectable in blood. They often appear very early in disease progression, sometimes long before symptoms develop, making them excellent biomarkers for early RA detection. The widely used anti-CCP test (anti-cyclic citrullinated peptide) is based on these ACPAs. Anti-CCP is measured in serum using ELISA. Combined with clinical presentation and RF testing, this anti-CCP test aids in RA diagnosis.

  Rheumatoid factor testing

  Rheumatoid factors are autoantibodies produced during autoimmune responses. The rheumatoid factor test (RF test) is a blood test that detects the presence of these factors. However, this test is not specific to rheumatoid arthritis (RA) as rheumatoid factors can also appear in other forms of rheumatism or infections. Furthermore, small amounts of rheumatoid factor can be found in healthy individuals. Therefore, clinical examination and additional tests are necessary for definitive diagnosis. The RF test helps differentiate rheumatic disorders from other conditions causing joint inflammation (arthritis) with similar symptoms (joint pain, inflammation, and stiffness).

  Anti-MCV test

  Another biomarker in the ACPA family is anti-mutated citrullinated vimentin (anti-MCV). This diagnostic marker is measured in serum using ELISA. While the anti-CCP test uses synthetic antigens (2-3 epitopes), the anti-MCV test employs natural human antigens (40 epitopes). This makes the anti-MCV ELISA highly sensitive and specific for early-stage RA detection. The sensitivity for early RA detection appears to increase further when both anti-CCP and anti-MCV are measured. The anti-MCV test is also valuable for disease severity prognosis and therapy monitoring.

Thyroid

• Thyroid Function Testing

  TSH

  The thyroid is regulated by TSH (thyroid-stimulating hormone), produced in the pituitary gland. In underactive thyroid conditions, blood TSH levels are elevated above normal. In overactive conditions, blood TSH levels are below normal. Abnormal TSH levels indicate disrupted TSH production. Additional testing of thyroid hormones T3 and T4 can further investigate abnormal TSH production. T4 concentration measurement is particularly important when clinically suspecting rare thyroid dysfunction or pituitary dysfunction.

  T3 and T4

  The thyroid produces two hormone types: T4 (thyroxine) and T3 (triiodothyronine). T4 is a precursor to the active thyroid hormone T3. Combined T4 and TSH values provide insight into thyroid function. T3 measurement is particularly important when thyroid hormone resistance is suspected.

Gastrointestinal tract and liver

• Gastroenteritis

  All-in-one test

  This stool test utilizes multiplex PCR technology in a point-of-care system. The sample is placed in an analyzer cartridge. The polymerase chain reaction amplifies DNA sequences from various microorganisms in a single run, enabling simultaneous detection of over twenty potential pathogens (thirteen bacteria, five viruses, and four parasites). Within one hour, diagnosis can be established and appropriate treatment initiated.

• Celiac Disease

  Celiac Testing

  The anti-tissue transglutaminase test (anti-tTG test) determines whether blood contains antibodies against tissue transglutaminase, an enzyme closely involved in small intestinal villous atrophy. Detection of these antibodies typically indicates gluten sensitivity (celiac disease). This ELISA assay (immune response) offers high sensitivity (92-96 percent) and specificity (98-100 percent). The anti-tTG blood test provides a simple diagnostic tool for investigating patients with persistent symptoms. Its excellent negative predictive value also makes it highly suitable for disease exclusion.

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