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Exome sequencing – panel-negative — RACP Paediatrics MCQ

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HardGeneticsExome sequencing – panel-negativeRACP Paediatrics

A child with suspected Noonan syndrome has characteristic features but standard Noonan gene panel testing (including PTPN11, SOS1, RAF1, RIT1) is negative. Clinical suspicion remains high. What is the most appropriate next genetic investigation?

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Correct answer: E — Exome sequencing

When a targeted gene panel is negative but clinical suspicion for a genetically heterogeneous condition remains high, broader testing with whole exome sequencing (WES) can identify variants in genes not included on the panel or in newly described disease genes. WES provides more comprehensive coding sequence analysis.

Reference: RACP Paediatric Curriculum – Genetics