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Test Code NMOFS Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum

Useful For

Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD)

 

Diagnosis of autoimmune AQP4 channelopathy

 

Diagnosis of neuromyelitis optica (NMO)

 

Distinguishing NMOSD from multiple sclerosis early in the course of disease

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
NMOTS NMO/AQP4 FACS Titer, S No No

Testing Algorithm

When the results of this assay require further evaluation, NMOTS / Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Titer Assay, Serum will be performed at an additional charge.

Method Name

Flow Cytometry

Reporting Name

NMO/AQP4 FACS, S

Specimen Type

Serum


Specimen Required


Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Specimen Volume: 2 mL


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Serum Refrigerated (preferred) 28 days
  Frozen  28 days
  Ambient  72 hours

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

Mild OK; Gross OK

Other

NA

Clinical Information

Neuromyelitis optica (NMO), sometimes called Devic disease or opticospinal multiple sclerosis [MS]) is a severe, relapsing, autoimmune, inflammatory and demyelinating central nervous system disease that predominantly affects optic nerves and spinal cord.(1) The disorder is now recognized as a spectrum of autoimmunity (termed NMO spectrum disorders [NMOSD]) targeting the astrocytic water channel aquaporin-4 (AQP4).(1,2) Brain lesions are observed in >60% of patients with NMOSD and approximately 10% will be MS-like.(3) Children tend to have greater brain involvement than adults and brain lesions are more symptomatic than is typical for adult patients.(4) Extensive cerebral white matter signal abnormalities are sometimes encountered, most commonly in children, and are sometimes associated with encephalopathy. Circumventricular organs (CVO; eg, area postrema) are preferentially involved. Symptoms and signs attributable to area postrema involvement include intractable hiccups, nausea and vomiting, and these may occur in isolation, herald the onset of NMO or occur in association with the more classical optic neuritis or Longitudinally Extensive Transverse Myelitis (LETM).(5) Magnetic resonance imaging typically reveals large inflammatory spinal cord lesions involving 3 or more vertebral segments. During acute attacks, the cerebrospinal fluid contains inflammatory cells, but usually lacks evidence of intrathecal IgG synthesis. The clinical course is characterized by relapses of optic neuritis or transverse myelitis, or both. Many patients with NMOSD are misdiagnosed as having MS. Importantly, the prognosis and optimal treatments for the 2 diseases differ. NMOSD typically has a worse natural history than MS, with frequent and early relapses. NMOSD attacks are often severe resulting in a rapid accumulation of disability (blindness and paraplegia). More effective treatments combined with earlier and more accurate diagnosis has led to improved outcomes. Currently, in the AQP4-IgG era, 5 years after onset, approximately 30% of NMO patients will require a cane to walk and 10% will be wheelchair bound. Treatments for NMOSD include corticosteroids and plasmapheresis for acute attacks and mycophenolate mofetil, azathioprine, and rituximab for relapse prevention. Beta-interferon, a treatment promoted for MS, exacerbates NMOSD. Therefore, early diagnosis and initiation of NMO-appropriate immunosuppressant treatment is important to optimize the clinical outcome by preventing further attacks. Skeletal muscle abnormalities with hyperCKemia have been reported in a few NMOSD patients. Recent reports indicate focal retinal vascular attenuation, inner nuclear layer thickening and microcystic edema in some NMO patients. The sensitivity and specificity of Fluorescence-Activated Cell Sorting (FACS) assay for NMO is >80% and >99%, respectively.

 

Detection of NMO/APQ4-IgG allows distinction of NMOSD from MS and is indicative of a relapsing disease, mandating initiation of immunosuppression, even after the first attack, thereby reducing attack frequency and disability in the future.

Reference Values

Negative

Interpretation

A positive value is consistent with a neuromyelitis optica spectrum disorder (NMOSD) and justifies initiation of appropriate immunosuppressive therapy at the earliest possible time. This allows early initiation and maintenance of optimal therapy. Recommend follow-up in 3 to 6 months if NMOSD is suspected.

 

This autoantibody is not found in healthy subjects.

Clinical Reference

1. Wingerchuk DM, Lennon VA, Lucchinetti CF, et al: The spectrum of neuromyelitis optica. Lancet Neurol 2007;6:805-815

2. Lennon VA, Wingerchuk DM, Kryzer TJ, et al: A serum autoantibody marker of neuromyelitis optica; distinction from multiple sclerosis. Lancet 2004;364:2106-2112

3. Pittock SJ, Weinshenker BG, Lucchinetti CF, et al: Neuromyelitis optica brain lesions localized at sites of high aquaporin 4 expression. Arch Neurol 2006 Jul;63(7):964-968

4. McKeon A, Lennon VA, Lotze T, et al: CNS aquaporin-4 autoimmunity in children. Neurology 2008 Jul 8;71(2):93-100

5. Apiwattanakul M, Popescu BF, Matiello M, et al: Intractable vomiting as the initial presentation of NMO. Ann Neurol 2010 Nov;68(5):757-761

6. Waters P, McKeon A, Leite MI, et al: Multicentre comparison of aquaporin-4 IgG assays in NMO spectrum disorders. Neurology 2012;78:665-671

7. Fryer JP, Lennon VA, Pittock SJ, et al: AQP4 autoantibody assay performance in clinical laboratory service. Neurol Neuroimmunol Neuroinflammation 2014;1:e11

Day(s) and Time(s) Performed

Monday, Tuesday, Thursday; 6 p.m.

Analytic Time

5 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

CPT Code Information

86255

86256-NMO/AQP4-IgG FACS titer (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NMOFS NMO/AQP4 FACS, S 43638-6

 

Result ID Test Result Name Result LOINC Value
38324 NMO/AQP4 FACS, S 43638-6

Secondary ID

38324

Forms

If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf).

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.