Neuromyelitis optica spectrum disorders (NMOSD, formerly known as neuromyelitis optica or Devic’s syndrome) are a group of inflammatory diseases of the central nervous system characterised by demyelination and axonal damage, primarily affecting the optic nerve and spinal cord.
Eighty percent of NMOSD patients present serum autoantibodies directed against the water channel protein aquaporin-4 (anti-AQP4), which lead to astrocyte and axonal loss.
The diagnosis of AQP4-antibody positive NMOSD is based on clinical symptoms, magnetic resonance imaging (MRI) findings and the detection of anti-AQP4 antibodies in the serum. The anti-AQP4 IgG test is highly specific for NMOSD with antibodies detected in up to 90% of patients: it is also useful for monitoring disease activity and therapy effectiveness.
Testing for anti-AQP4 autoantibodies is also performed on cerebrospinal fluid (CSF). Although the positivity rate is higher in serum-only samples compared to CSF-only samples, CSF testing is useful in cases where serum results are negative.
About one-third of patients with clinical symptoms of NMO who are seronegative for anti-AQP4 antibodies present autoantibodies against the myelin oligodendrocyte glycoprotein (anti-MOG).
The diagnosis of MOG-antibody-associated encephalomyelitis is based on the clinical picture, imaging results and laboratory findings. Anti-MOG antibodies in the serum are highly specific for diagnosing this disease (98.5%).
Testing for anti-MOG autoantibodies is also performed on CSF, particularly in cases where there is a clinical suspicion but negative serum tests.
Detection of anti-AQP4 and anti-MOG autoantibodies is also important for the differential diagnosis from multiple sclerosis. Furthermore, patients with NMOSD who are positive for anti-AQP4 IgG antibodies may also present with other autoimmune diseases.
Serum, EDTA plasma, heparin plasma, citrate plasma, CSF
IFA cells
Fasting for at least 8-12 hours before sampling
Refer to the Health Service Charter to check storage conditions
+2/+8°C
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