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Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and\/or Sanger sequencing of select genes. The recent increased availability of next\u2010generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as <jats:italic>FGFR1<\/jats:italic>. We conducted a systematic review of the medical literature for the molecular testing of HPE for studies published in the last 20 years. We also queried known commercial diagnostic laboratories and used information on their websites to construct a list of available commercial testing. Our group released its first recommendations in 2010 and this update incorporates the technology shifts and gene discoveries over the last decade. 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