false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Importance Of Parental Segregation Studies and its ...
Importance Of Parental Segregation Studies and its Role in Variant Classification
Back to course
Pdf Summary
Genetic testing has become important in diagnosing and managing genetic disorders, but the interpretation of results requires follow-up parental testing. This study highlights the significance of parental segregation studies in accurately classifying gene variants. Several case studies demonstrate how parental testing aided in reclassifying variants. In one case, the variant was reassessed from uncertain significance to likely pathogenic based on parental segregation analysis, phenotype correlation, and its absence in the general population. Similarly, another variant was reclassified from uncertain significance to likely benign after testing the parents and finding that it did not co-segregate with the clinical phenotype. In a different case, the testing of parents revealed that two variants were in trans in the affected proband, and biochemical analysis further supported the reclassification of these variants from uncertain significance to likely pathogenic. Parental segregation analysis is crucial in verifying the causative variants and identifying de novo occurrences. It provides valuable information for the reclassification of reported variants. The study recommends performing parental analysis after testing the proband to better understand complex genetic variations. In conclusion, this research emphasizes the importance of follow-up parental segregation studies in accurately classifying gene variants, which ultimately improves the diagnostic outcome in genetic testing.
Asset Subtitle
Presenting Author - Shruti Sureshkumar, M.SC, GC; Co-Author - Arul Joseph Duraisamy, PhD; Co-Author - Lakshmanan Jagannathan, PhD; Co-Author - Rajiv Rose, PH.D; Co-Author - Christin D. Collins, PhD, FACMG; Co-Author - Madhuri Hegde, PhD, FACMG;
Meta Tag
Clinical History
Genetic Testing
Genotype-Phenotype Correlations
NextGen Sequencing
Variant Detection
Co-Author
Arul Joseph Duraisamy, PhD
Co-Author
Lakshmanan Jagannathan, PhD
Co-Author
Rajiv Rose, PH.D
Co-Author
Christin D. Collins, PhD, FACMG
Co-Author
Madhuri Hegde, PhD, FACMG
Presenting Author
Shruti Sureshkumar, M.SC, GC
Keywords
genetic testing
diagnosing genetic disorders
managing genetic disorders
interpretation of results
parental testing
parental segregation studies
reclassifying gene variants
uncertain significance
likely pathogenic
likely benign
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×