This condition is referred to as a spectrum of multifactorial neurologic disorders that is accompanied by the presence of neuronal autoantibodies in the blood or cerebrospinal fluid. The most common antibodies are targeted to “attack” specific receptors in the brain (N-methyl-d-aspartate receptor, glioma-inactivated leucine-rich protein 1 (LGI1) and glutamic acid decarboxylase 65 (GAD65)). Determination of neuronal antibodies is helpful in disease diagnosis, but there is no single specific antibody characteristic of a given type of epilepsy.

Test benefits:

• Comprehensive diagnosis of multiple neuronal autoantibodies with a link to epilepsy.
• Assist the physician in the selection of drugs for immune therapy.

Tests:

• EPS2 | Epilepsy, autoimmune/paraneoplastic evaluation, serum
• EPC2 | Epilepsy, autoimmune/paraneoplastic evaluation, cerebrospinal fluid

Previously, most encephalopathies were recognized as infectious; now an association with autoimmune disorders has been proven. Clinical studies have shown that autoimmune encephalopathy is as common as pathology of an infectious nature. Our panel suite includes a comprehensive evaluation, targeted antibody tests, additional tests to identify etiologic factors and select the correct treatment.

Test benefits:

• Evaluation of 20 antibodies that have an association with the disease.
• Identification of etiologic factors.
• Diagnosis of encephalopathy that occurred during or after oncology treatment and yet is not explained by metastasis or exposure to treatment drugs.
• Targeted search for cancer cells.
• Results help determine which protocols should be used for treatment: immunosuppressive therapy or cancer treatment.

Tests:

• ENS2| Encephalopathy, autoimmune/paraneoplastic evaluation, serum
• ENC2 | Encephalopathy, autoimmune/paraneoplastic evaluation, cerebrospinal fluid
• K11CS | Antibodies to Kelch-like protein 11, cell binding assay, serum
• K11CS | Antibodies to Kelch-like protein 11, cell binding assay, cerebrospinal fluid
• MA2ES | Ma2 antibody by ELISA (ELISA), serum
• MA2EC | ELISA-ELISA-derived Ma2 antibody, cerebrospinal fluid.
• MDS2 | Movement disorder, autoimmune/paraneoplastic evaluation, serum
• MDC2 | Movement disorder, autoimmune/paraneoplastic evaluation, cerebrospinal fluid
• ORXNA | Orexin-A/Hypocretin-1, cerebrospinal fluid

This is a complex disease that causes immune-mediated cognitive impairment. Manifestations range from acute limbic encephalitis to subacute or chronic disorders that mimic neurodegenerative dementia. Therefore, it is important to diagnose accurately and quickly to avoid complications for the patient and devastating consequences for family members.

Test benefits:

• The results allow a quick and correct selection of targeting drugs and start treatment as early as possible.

Tests:

• DMC2| Dementia, autoimmune/paraneoplastic assessment, cerebrospinal fluid
• DMS2 | Dementia, autoimmune/paraneoplastic evaluation, serum

Rare autoimmune neuromuscular diseases. In myasthenia gravis syndrome, impulse transmission from nerves to transverse striated muscle fibers is impaired. Eaton-Lambert syndrome is characterized by the production of antibodies to potential-dependent calcium channels, due to which neuromuscular transmission is also impaired. The panel of tests presented includes determination of the autoantibody profile associated with these diseases.

Test benefits:

• The high sensitivity of the test reduces the possibility of false positive results.
• Reduces the need for CT scans.
• Possibility of avoiding unnecessary surgical treatment and immunotherapy.

Tests:

• MGLE | Evaluation of myasthenia gravis/Lambert-Eaton myasthenic syndrome, serum
• MGMR | Evaluation of myasthenia gravis with muscle specific kinase (MuSK), serum

Antibodies targeting GFAP (glial fibrillary acidic protein) have been identified as biomarkers of autoimmune astrocytopathy, predominantly developing as meningoencephalomyelitis. The disease can be treated with immunotherapy drugs.

Test benefits:

• Evaluation of multiple antibody markers for disease diagnosis.
• Ability to distinguish myelopathy from other pathologies with similar symptomatology (e.g., multiple sclerosis, sarcoidosis, cerebral vascular pathologies).
• Early detection helps in the search for hidden oncology.
• Teatment can be started earlier, with modern diagnostic methods application.

Tests:

• MAS1 | Myelopathy, autoimmune/paraneoplastic score, serum
• MAS1 | Myelopathy, autoimmune/paraneoplastic evaluation, cerebrospinal fluid

Our panel is represented by testing for antibodies associated with paraneoplastic retinopathy or cancer retinopathy. Rapid and painless loss of vision in both eyes at once may suggest the presence of a malignant tumor. Patients with such symptoms are excellent candidates for this test. Also, positive results may indicate the presence of small cell lung cancer, which is usually diagnosed in advanced stages. Otherwise, the cancer could be detected much later.

Test benefits:

• Evaluation of antibodies to CRMP-5 and recoverin, confirming the diagnosis of paraneoplastic vision loss.
• Assistance in cancer diagnoses.
• Possibility of selecting an optimal treatment regimen.

Tests:

• RCVBS | Antibodies to recoverin-IgG, immunoblotting, serum
• PVLE | Assessment of paraneoplastic visual loss, serum

Movement disorders, which may be ataxic, hypokinetic or hyperkinetic in nature, present with different symptomatology and have a variety of causes, may be associated with antibody biomarkers. The identification of these signs allows a correct and rapid diagnosis, determination of etiologic factors, and the development of individualized treatment protocols adapted to the type of antibodies, severity of symptomatology, and presence/absence of oncology.

Test benefits:

• Assessment of antibody levels to SEPT5, SEPT7 and KLHL11 proteins.
• Finding the optimal treatment regimen.
• Test for antibodies to GAD65, GlyRα1, DPPX and amphiphysin.

Tests:

• MDS2 | Movement disorder, autoimmune/paraneoplastic evaluation, serum
• MDC2 | Movement disorder, autoimmune/paraneoplastic evaluation, cerebrospinal fluid
• SPPS | Assessment of stiffness spectrum disorders including progressive encephalomyelitis with rigidity and myoclonus, serum
• SPPC | Assessment of stiffness spectrum disorders including progressive encephalomyelitis with rigidity and myoclonus, cerebrospinal fluid
• MA2ES | ELISA-derived Ma2 antibody, serum
• MA2EC | ELISA-derived Ma2 antibody, cerebrospinal fluid.
• ORXNA | Orexin-A/Hypocretin-1, cerebrospinal fluid.
• ENS2 | Encephalopathy, autoimmune/paraneoplastic evaluation, serum
• ENC2 | Encephalopathy, autoimmune/paraneoplastic evaluation, cerebrospinal fluid

Necrotizing immune-mediated myopathies (myositis) are a rare but dangerous disease in which muscle cells die; other tissues are not affected. 

The presence of IgG antibodies to 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) can be suspected by the presence of this disease.  Our genetic panel allows early detection of the pathology and immediate treatment.

Test benefits:

• Assesses the levels of two important antibodies, HMGCR-IgG and SRP-IgG, associated with necrotizing immune-mediated myopathy, with a single assay.
• Detection of SRP-IgG by ELISA followed by immunoblotting technology.
• Results ready within a week.

Tests:

• NMS1 | Evaluation of necrotizing myopathy, serum.

A distinction is made between axonal neuropathy and demyelinating neuropathy. Although these conditions are cross-referenced, the response to treatment differs depending on the cause and mechanism of pathology. It is for this purpose that the evaluation of biological markers is necessary. Our genetic panel allows us to evaluate specific antibodies associated with a particular type of neuropathy.

Axonal neuropathy

The pathology is characterized by sensory and motor impairments resulting from lesions of distal nerves, roots, ganglia. Patients have symmetric or asymmetric lesions of the limbs, trunk and head. Asymmetrical lesions and lack of vivid symptoms are more indicative of inflammatory or immune causes than metabolic or hereditary causes. Because of the specificity of the disease, our laboratory recommends a comprehensive approach to diagnosis rather than detection of any single antibody.

Test benefits:

• Assessment of the level of specific antibodies whose association has been shown to be associated with axonal neuropathy.
• Accuracy in identifying etiologic factors and prognosis.
• Assistance in selecting an individualized treatment regimen.

Tests:

• AIAES | Axonal Neuropathy, Autoimmune/Paraneoplastic Assessment, Serum.

Demyelinating neuropathy

The disease includes the following progressive conditions that have similar motor/sensory impairments:

• Chronic demyelinating polyradiculoneuropathy;
• Guillain-Barré syndrome;
• chronic immunosensory polyradiculoneuropathy;
• distal acquired sensory neuropathy.

Test benefits:

• Evaluation of antibodies to neurofascin-155 (NF155) and CNTN1, markers associated with chronic demyelinating polyradiculoneuropathy.
• A combined method during which a fixed cell assay is performed to measure antibody levels against CNTN1 and live cell flow cytometry to detect antibodies against NF155. The method provides high clinical specificity.

Tests:

• CIDP | Evaluation of chronic inflammatory demyelinating polyradiculoneuropathy/nodopathy, serum