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EVWhole Exome Sequencing! A test that’s becoming (if not already is) the gold standard for many pediatric indications for genetic testing. In fact, the ACMG “strongly recommends” that exome or genome sequencing be considered as a first or second tier test for patients with congenital anomalies, developmental delays, or intellectual disabilities (PMID: 34211152).
💰BONUS TIP: Always try to run this test as a TRIO, meaning getting maternal and paternal DNA as well. You can run these in tandem with the proband (patient) sample and can better sort out those variants of uncertain significance (VUS). Just make sure you get consent as there are numerous other “side quests” that can pop up when running things in trio...like is dad really dad and mom really mom? Are dad and mom related? How is this going to affect my insurance?
💰💰BONUS BONUS TIP: Genetic counselors are the best. They are experts at many things, and one of their superpowers is obtaining consent in a way that is non-judgemental, informative, and efficient. Spend time with your local GCs to see how the pros do it.
📝Small side note: In our opinion, a gene panel still can be useful if there is a narrow phenotype, but should you start to have to think about ordering multiple panels, you should really consider moving to a test like whole exome/genome sequencing.
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