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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting by Rayabarapu Pranav Chand; Wankhede Vinit; Varsha Vaidya; Anand Subramaniam Iyer; Madhavi Shelke; Shagun Aggarwal; Suvarna Magar; Sumita Danda; Amita Moirangthem; Shubha Rajendra Phadke; Manisha Goyal; Prajnya Ranganath; Mehul Mistri; Parth Shah; Nidhi Shah; Udhaya Hardik Kotecha is a scholarly article available to read on EtoBox.

What is Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting about?

Whole exome sequencing is recommended as the first tier test for neurodevelopmental disorders (NDDs) with trio being an ideal option for the detection of de novo variants. Cost constraints have led to adoption of sequential testing i.e. proband-only whole exome followed by targeted testing of parents. The reported diagnostic yield for proband exome approach ranges between 31 and 53%. Typically, these study designs have aptly incorporated targeted parental segregation before concluding a genetic diagnosis to be confirmed. The reported estimates however do not accurately reflect the yield of proband only standalone whole -exome, a question commonly posed to the referring clinician in self pay medical systems like India. To assess the utility of standalone proband exome (without follow up targeted parental testing), we retrospectively evaluated 403 cases of neurodevelopmental disorders referred for proband-only whole exome sequencing at Neuberg Centre for Genomic Medicine (NCGM), Ahmedabad during the period of January 2019 and December 2021. A diagnosis was considered confirmed only upon the detection of Pathogenic/Likely Pathogenic variants in concordance with patient's phenotype as

Author

Rayabarapu Pranav Chand; Wankhede Vinit; Varsha Vaidya; Anand Subramaniam Iyer; Madhavi Shelke; Shagun Aggarwal; Suvarna Magar; Sumita Danda; Amita Moirangthem; Shubha Rajendra Phadke; Manisha Goyal; Prajnya Ranganath; Mehul Mistri; Parth Shah; Nidhi Shah; Udhaya Hardik Kotecha

Publisher

Elsevier BV

Published

2023

Language

EN