2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-A Multiplexed Targeted PCR and Single Nucleotide Extension assay for the 14 Most Common Thanatophoric Dysplasia I and II Mutations

A Multiplexed Targeted PCR and Single Nucleotide Extension assay for the 14 Most Common Thanatophoric Dysplasia I and II Mutations

Back to course

Pdf Summary

Researchers at ARUP Laboratories and the University of Utah have developed a multiplexed targeted PCR and single nucleotide extension (SNE) assay for the diagnosis of the most common types of Thanatophoric Dysplasia (TD) mutations. TD is a lethal skeletal disorder characterized by extremely short limbs and extra folds of skin on the arms and legs. The disorder is caused by mutations in the FGFR3 gene, with two subtypes, TD I and TD II. The assay targets 14 of the most common TD mutations in a single reaction.<br /><br />To validate the assay, the researchers used thirty patient samples and four artificial templates representing all fourteen TD I and TD II alleles and their variants. All alleles were correctly genotyped using the assay, and automatic allele calling was achieved using GeneMapper software.<br /><br />Compared to traditional sequencing approaches, such as Sanger sequencing or next-generation sequencing (NGS), the targeted PCR and SNE assay provides a cost-effective and quicker diagnosis for TD in both prenatal and perinatal settings. It reduces the turnaround time required for assay performance and analysis.<br /><br />The researchers provide the primer sequences used in the assay, along with the PCR conditions. They suggest that the assay is a robust, multiplexed tool for identifying TD mutations, providing high clinical sensitivities for both TD I and TD II.

Asset Subtitle

Presenting Author - Mohamed Jama, MS, MB (ASCP); Co-Author - N.Scott Reading, PhD; Co-Author - Eric Fredrickson, PhD; Co-Author - Yuan Ji, PhD, MBA, FACMG;

Meta Tag

Bone/Joint Abnormalities

Fetal Pathology

Pathology

Prenatal Diagnosis

Co-Author N.Scott Reading, PhD

Co-Author Eric Fredrickson, PhD

Co-Author Yuan Ji, PhD, MBA, FACMG

Presenting Author Mohamed Jama, MS, MB (ASCP)

Keywords

ARUP Laboratories

University of Utah

multiplexed targeted PCR

single nucleotide extension

Thanatophoric Dysplasia

TD mutations

FGFR3 gene

assay validation

prenatal diagnosis

clinical sensitivities