Platform Session 6: Laboratory Genetics
21 Mar 2025
Meeting Room:
Petree Hall D
Clinical Genetics and Therapeutics
,
Laboratory Genetics and Genomics
,
Prenatal Genetics
-
Accredited:
- Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O37 - One Test Fits All: Clinical HiFi Sequencing for Pediatric Rare Disease
O52 - Diagnostic Benefits of Long-Read Genome Sequencing for Short-Read Negative Rare Disease Cases
O53 - Can Integrated Genomic Analysis Replace Chromosomal Analysis for the Diagnosis of Hematological Malignancies: Addressing the Shortage of Cytogenetic Technologists
O56 - The Value of Cytogenetics in the Age of Genome Sequencing
O58 - High‐Resolution Haplotyping of PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations
O61 - Intragenic DMD Duplications Should not be Presumed to be Likely Pathogenic: Findings from Long-read Sequencing
O37 - One Test Fits All: Clinical HiFi Sequencing for Pediatric Rare Disease
O52 - Diagnostic Benefits of Long-Read Genome Sequencing for Short-Read Negative Rare Disease Cases
O53 - Can Integrated Genomic Analysis Replace Chromosomal Analysis for the Diagnosis of Hematological Malignancies: Addressing the Shortage of Cytogenetic Technologists
O56 - The Value of Cytogenetics in the Age of Genome Sequencing
O58 - High‐Resolution Haplotyping of PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations
O61 - Intragenic DMD Duplications Should not be Presumed to be Likely Pathogenic: Findings from Long-read Sequencing
Agenda
-
1:30 PM – 3:00 PM -
One Test Fits All: Clinical HiFi Sequencing for Pediatric Rare Disease1:30 PM – 1:45 PM -
Diagnostic Benefits of Long-Read Genome Sequencing for Short-Read Negative Rare Disease Cases1:45 PM – 2:00 PM -
Can Integrated Genomic Analysis Replace Chromosomal Analysis for the Diagnosis of Hematological Malignancies: Addressing the Shortage of Cytogenetic Technologists2:00 PM – 2:15 PM -
The Value of Cytogenetics in the Age of Genome Sequencing2:15 PM – 2:30 PM -
High‐Resolution Haplotyping of PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations2:30 PM – 2:45 PM -
Intragenic DMD Duplications Should not be Presumed to be Likely Pathogenic: Findings from Long-read Sequencing2:45 PM – 3:00 PM
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