Genetic Test for Noonan Syndrome | The Children's Hospital of Philadelphia

Pathology and Laboratory Medicine

Genetic Testing for Noonan Syndrome Now Available

The Molecular Genetics Laboratory at the Children’s Hospital of Philadelphia announced the introduction of a diagnostic test for the Noonan spectrum of disorders using next generation sequencing technology. Sequencing for the Noonan spectrum panel will be performed on Illumina’s MiSeq in combination with Raindance capture technology.

The Molecular Genetics Laboratory is housed within the Department of Pathology and Laboratory Medicine at the Children’s hospital of Philadelphia. The CAP and CLIA-certified laboratory specializes in providing DNA-based diagnostic testing for genetic disorders affecting children and adults worldwide.

Avni Santani, Scientific Director of the Molecular Genetics Laboratory, and the team lead for this project, said the laboratory was in a unique position to harness the power of next generation sequencing and translate in to a clinical diagnostic test. “Successful adoption of next generation sequencing (NGS) technology for diagnostic testing requires coordination between the diagnostic laboratory, informaticists, clinicians and regulatory agencies. This project which was collaboration between the Molecular Genetics Laboratory team, the Center for Applied Genomics and Center for Biomedical Informatics was focused on establishing a rigorous clinical diagnostic workflow that would be in compliance with CAP regulatory standards. Our goal was to establish good practices for quality control, data analysis as well as interpretation of next generation sequencing data using guidelines from CAP.”

Targeted resequencing still provides the most cost effective approach for high quality diagnostic testing of heterogeneous genetic disorders in a rapid and efficient manner, according to Dr. Santani. The Molecular Genetics Laboratory at CHOP is currently validating additional disease panels on different capture methods including Agilent’s Sureselect and Life Technologies’ Ampliseq. 

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