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Diagnosing NMOSD

AN AQP4-IgG ANTIBODY TEST IS RECOMMENDED FOR DIAGNOSING NMOSD1

Conducting proper antibody testing using a cell-based assay (CBA), and having a full diagnostic workup,* is important to diagnosing NMOSD and distinguishing it from other autoimmune diseases.

AQP4-IgG, aquaporin-4 immunoglobulin G.
This is a hypothetical patient.
*

Diagnostic workup includes a complete medical history and physical exam, labs, electrophysiological analysis, and imaging studies.1

BECAUSE AQP4-IgG+ NMOSD IS THE MOST PREVALENT FORM OF NMOSD, FOLLOW THESE DIAGNOSTIC CRITERIA2,3

Number 1

At least 1 core clinical characteristic2:

  • Optic neuritis
  • Acute myelitis
  • Area postrema syndrome
  • Acute brain stem syndrome
  • Symptomatic narcolepsy or acute diencephalic clinical syndrome with NMOSD-typical diencephalic magnetic resonance imaging (MRI) lesions
  • Symptomatic cerebral syndrome with NMOSD-typical brain lesions
Number 2

Positive test for AQP4-IgG antibodies2

  • 73% of NMOSD cases are AQP4-IgG+3
Number 3

Exclusion of alternative diagnoses such as multiple sclerosis (MS), sarcoidosis, or neoplasm2

SEVERAL TYPES OF TESTING CAN HELP DETERMINE IF A PATIENT HAS NMOSD1

Medical History and Physical Exam

Perform detailed medical history

Pay special attention to:

  • Brain stem symptoms
  • Neuropathic pain
  • Painful tonic spasms
Laboratory Tests

Blood work

  • Rule out infection and connective disorders

Cerebrospinal fluid (CSF) diagnostics

  • Unlike in MS, most CSF alterations in NMOSD present during acute events and disappear during remission

Serum AQP4-IgG testing

  • Essential and most important test in the diagnosis of NMOSD
  • Confirm with methodologically independent assay
Electrophysiology Analysis

Visual evoked potentials

Median and tibial somatosensory evoked potentials

Motor evoked potentials

Imaging Studies

MRI

  • Image entire central nervous system (CNS)
  • Central longitudinal spinal cord lesions are typical of NMOSD

Optical coherence tomography

  • Useful for imaging unmyelinated CNS axons within the retina

LIVE CBA IS THE PREFERRED METHOD OF TESTING FOR AQP4-IgG+ NMOSD2,4

The likelihood of having a false-negative result with enzyme-linked immunosorbent assay (ELISA) methodology is between 1.5 and 15 times greater when compared to the CBA.4

Live CBAs2

  • Specifically, live CBAs are the preferred method of testing due to high sensitivity and specificity of results and a lower rate of false positives as compared to fixed CBAs and ELISA
  • The International Panel for NMO Diagnosis (IPND) strongly recommends testing with CBAs whenever possible because they optimize autoantibody detection

FALSE NEGATIVES CAN HAPPEN; IF SIGNS POINT TO NMOSD, A RETEST IS RECOMMENDED4

A false negative is more likely to happen if:

  • A patient is recovering from relapse
  • A patient is currently on immunosuppressive therapies
  • A less accurate method of testing was used

If clinical suspicion remains, you may retest 3 to 6 months after a negative result.4

COMMERCIAL REFERENCE LABORATORIES THAT OFFER CELL-BASED ASSAYS FOR NMOSD

Mayo Clinical Laboratories

3050 Superior Dr NW

Rochester, MN 55901

Phone: 1-800-533-1710

Phone: 1-507-266-5700

Fax: 1-507-284-1759

mayocliniclabs.com

NMOSD test code (anti-aquaporin 4 (AQP4) with reflex to anti-MOG)

NMOFS & MOGFS, FACS, Cell sorting
Order both codes

Neurocode USA Lab

3548 Meridian St, Suite 101

Bellingham, WA 98225

Phone: 1-778-991-5350

Fax: 1-604-822-0758

info@neurocode.com

NMOSD test code (anti-aquaporin 4 (AQP4) with reflex to anti-MOG)

Live CBA, STAT (Same-day TAT) IHC on Snap-frozen brains

ARUP
Laboratories

500 Chipeta Way

Salt Lake City, UT 84108

Phone: 1-800-522-2787

clientservices@aruplab.com

NMOSD test code (anti-aquaporin 4 (AQP4) with reflex to anti-MOG)

3001283
IFA

Athena Diagnostics

200 Forest St, 2nd Floor

Marlborough, MA 01752

Phone: 1-800-394-4493, option 2

athenadiagnostics.com/ordering/supplies/requisition-forms

NMOSD test code (anti-aquaporin 4 (AQP4) with reflex to anti-MOG)

1287
CBA

Quest Diagnostics

500 Plaza Dr

Secaucus, NJ 07094

Phone: 1-866-MYQUEST (1-866-697-8378)

questdiagnostics.com

NMOSD test code (anti-aquaporin 4 (AQP4) with reflex to anti-MOG)

38312
IFA


Alexion acquires aggregate, fully anonymized data and relevant information from testing laboratories, including those listed here.
Testing laboratories' provision of data to Alexion did not play a role in the inclusion of those laboratories listed herein. This list was chosen
based on each laboratory's representation that it provides live or fixed cell-based assays for antibodies corresponding to disease states as
listed, and offers reflex testing for minority antibodies where noted. Alexion does not warrant or guarantee the laboratories’
representations. Alexion is committed to patient privacy and compliance with state and federal privacy laws. Visit the Alexion privacy
notice.

NMOSD IS OFTEN MISDIAGNOSED
AS MS5

NMOSD VS MS

ATTACKS CAN BE RECURRENT AND MAY PREDICT FUTURE DISABILITY5,6

CYCLE OF ATTACKS
References: 1. Trebst C, Jarius S, Berthele A, et al. Update on the diagnosis and treatment of neuromyelitis optica: recommendations of the Neuromyelitis Optica Study Group (NEMOS). J Neurol. 2014;261(1):1-16. 2. Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177-189. 3. Hamid SHM, Whittam D, Mutch K, et al. What proportion of AQP4-IgG-negative NMO spectrum disorder patients are MOG-IgG positive? A cross sectional study of 132 patients. J Neurol. 2017;264(10):2088-2094. 4. Waters PJ, Pittock SJ, Bennett JL, Jarius S, Weinshenker BG, Wingerchuk DM. Evaluation of aquaporin-4 antibody assays. Clin Exp Neuroimmunol. 2014;5(3):290-303. 5. Jarius S, Ruprecht K, Wildemann B, et al. Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: a multicentre study of 175 patients. J Neuroinflammation. 2012;9:14. 6. Kitley J, Leite MI, Nakashima I, et al. Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan. Brain. 2012;135(pt 6):1834-1849.