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Prenatal Molecular Diagnosis of Skeletal Dysplasias Using Targeted NGS Panels

Video Transcription

Video Summary

The video is a presentation given by the Assistant Medical Director at Connective Tissue Gene Test, Keri Brown, at the ACMG Genomics Case Conference. The presentation focuses on the prenatal molecular diagnosis of skeletal dysplasias using targeted NGS panels. The speaker discusses the overall results of their testing panel, which includes both a core panel and an extended panel of genes responsible for the disorders. They highlight the genes FGFR3, COL2A1, COL1A1, COL1A2, ALPL, SLC26A2, and SOX9 as being responsible for the majority of cases. The speaker emphasizes the importance of gene-specific guidelines for variant interpretation when testing these genes. They also discuss the benefits of using targeted panels, such as quicker turnaround times and lower cost compared to exome or genome sequencing. The speaker concludes by discussing the need for continuously updating the panels based on new information and test results to increase the clinical sensitivity of the test. The presentation includes case examples and the speaker answers questions from the audience. The video is part of the ACMG Genomics Case Conference and is supported by an educational grant from QIAGEN.

Asset Subtitle

Hosted by Connective Tissue Gene Tests (CTGT)

Keywords

Connective Tissue Gene Test

Keri Brown

ACMG Genomics Case Conference

skeletal dysplasias

targeted NGS panels

FGFR3

COL2A1

ALPL

QIAGEN