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Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping.
Pratik Koppikar1, Suresh Shenoy1, Naga Guruju1
1PerkinElmer Genomics, Pittsburgh, Pennsylvania, USA.
Current Protocols
|January 17, 2023
Summary
Optical genome mapping precisely diagnoses Facioscapulohumeral Muscular Dystrophy (FSHD) by quantifying the D4Z4 repeat array. This advanced technique offers improved specificity and reduced analysis time for genome-wide structural variation detection.
Area of Science:
- Genomics
- Molecular Biology
- Genetic Diagnostics
Background:
- Traditional genome-wide analyses faced limitations in time constraints and specificity.
- Optical genome mapping (OGM) enables detection of structural variations and aberrations from single DNA molecules.
- Facioscapulohumeral Muscular Dystrophy (FSHD) diagnosis relies on D4Z4 repeat array quantification.
Purpose of the Study:
- To present a protocol for OGM-based detection and analysis of FSHD.
- To highlight the utility of OGM in enumerating the D4Z4 repeat array for precise FSHD diagnosis.
- To demonstrate the efficiency of OGM in genome-wide structural variation analysis.
Main Methods:
- Genomic DNA isolation, labeling, and staining.
- Sample preparation for OGM.
- Mapping and analysis using the Bionano Saphyr® system.
Main Results:
- OGM allows for accurate quantification of the D4Z4 repeat array.
- The protocol enables precise diagnosis of FSHD.
- OGM significantly reduces analysis time compared to previous methods for genome-wide studies.
Conclusions:
- OGM is a powerful tool for precise FSHD diagnosis.
- The presented protocol facilitates efficient FSHD analysis.
- OGM has broad applications for disease analysis pipelines and structural variation detection.
