Testing for Genetic Syndromes Related to Developmental Delay (DD) and Intellectual Disability (ID)

Developmental delay (DD) is defined as any significant lag in a child's physical, cognitive, emotional, or social maturity when compared to established norms. Intellectual disability (ID) is classified by neurocognitive impairments as well as significant limitations in adaptive living skills. Laboratory testing should be considered as part of a comprehensive evaluation for individuals with DD and/or ID (with or without comorbidities) to assist with treatment and management decision-making.

Refer to ARUP Laboratories’ test offerings below.

ARUP Laboratory Tests


Tandem Mass Spectrometry/Electrophoresis/Spectrophotometry/ Gas Chromatography-Mass Spectrometry/Liquid Chromatography-Tandem Mass Spectrometry/Quantitative Liquid Chromatography-Tandem Mass Spectrometry, Genomic Microarray (Oligo-SNP Array), Polymerase Chain Reaction/Capillary Electrophoresis