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Abstract Details

Whole Genome Sequencing in Adult Neuroimmunology Clinic: A Single Center Experience
Autoimmune Neurology
P2 - Poster Session 02 (3:00 PM-4:00 PM)
C19 - Focus on Emerging Diagnostics (4:06 PM-4:16 PM)
1-017

To describe diagnostic yield of whole exome (WES)/whole genome sequencing (WGS) testing in adult white matter diseases mimicking multiple sclerosis/neuroimmunological disorders.

To describe clinical, radiological features and treatment decisions made in select cases of white matter disease with pathogenic variants identified through such genetic testing.
An increasing number of monogenic mimics of neuro-inflammatory diseases are being identified through availability of genetic testing. Research remains limited in its utility in neuroimmunology clinic adults. We describe our single center experience of utility of such testing in terms of diagnostic yield and select examples of complex diagnoses and the impact of broad genetic testing on patient management. 
This is a retrospective cases series of patients tested between 07/2025- 05/2026 with WES or WGS. We describe clinical and imaging characteristics of pathogenic or likely pathogenic variants and cumulative data on our experience in the clinic.
WGS/WES was completed in 14; results for 6 remain pending. Among completed cases, 4 (28%) yielded pathogenic or likely pathogenic variants and 6 (42%) had variants of uncertain significance (VUSes) with strong phenotypic correlation. 1 patient had three pathogenic variants explaining her complex symptomatology. Genetic etiologies included CSF1R disease, PSEN1-related dementia, channelopathies (CACNA1A1), NOTCH3 and 15q26 duplication disorder. Genomic testing findings led to reclassification of possible CNS demyelination/Multiple sclerosis in 3 patients and treatment modification in 1 patient. Other patients with VUSes (6/15) are planned to get functional testing/RNA sequencing for variant reclassification.
There is an increasing need to use WGS/WES when diagnostic red flags are present in cases of suspected neuro-immune disorders. 
Authors/Disclosures
Ayush Gupta, MD
PRESENTER 		Dr. Gupta has nothing to disclose.
Sulafa G. Saffarini, MD (university of nebraska medical center) Dr. Saffarini has nothing to disclose.
Elizabeth A. Hartman, MD, FAAN An immediate family member of Dr. Hartman has or had stock in Amgen.
Rana K. Zabad, MD, FAAN (University of Nebraska Medical Center) Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bayer. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genentech. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Celgene/BMS. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genzyme. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck Serono. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Teva Neurosciences. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG Therapeutics. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Teva. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Genentech. Dr. Zabad has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for BMS. The institution of Dr. Zabad has received research support from Adamas. The institution of Dr. Zabad has received research support from Biogen. The institution of Dr. Zabad has received research support from Novartis. The institution of Dr. Zabad has received research support from Sun Pharma. The institution of Dr. Zabad has received research support from Parexel & MedDay Pharmaceuticals.
Lakshman N. Arcot Jayagopal, MD (Nebraska Medical Center) Dr. Arcot Jayagopal has nothing to disclose.