VALUE OF OPTICAL GENOME MAPPING (OGM) FOR DIAGNOSTICS OF RARE DISEASES: A FAMILY CASE REPORT
Kovanda A1,2, Miljanović O3, Lovrečić L1,2, Maver A1,2, Hodžić A1,2, Peterlin B1,2,*
*Corresponding Author: *Corresponding Author: Prof. Borut Peterlin, Clinical Institute of Genomic Medicine, University
Medical Centre Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia. borut.peterlin@kclj.si
page: 87
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CONCLUSION
In conclusion, OGM represents a useful new method
in the repertoire of genomic diagnostics available at CIGM
UMCL, however applying ACMG criteria and ClinGen
guidelines to SVs remains demanding, highlighting the
complexity of the modern genomic diagnostic approach to
rare disease testing. In our experience, currently, a major
limitation of the method remains the difficulty of interpre-
tation due to its novelty and the lack of healthy control
population variants, which will hopefully be resolved and
will increase the diagnostic yield of this method in the
future. To circumvent this limitation, in the testing of rare
disease patients, OGM in a trio setup is currently advised.
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