Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

“…CMA is the guideline-recognized first-tier test in the evaluation of MCA, DD/ID, and ASD, [2–6] and yields significant rates of abnormal or potentially abnormal (VOUS) results [7–17] with clinical utility for the management of individuals with these disorders [28, 29, 32–39]. Since the introduction of this technology, the total genomic content in terms of probes on CMAs has progressively increased, leading to higher diagnostic yields and resolution of abnormalities [10, 14–17] with corresponding increases in clinical value of these tests [32–40].…”

“…Since the introduction of this technology, the total genomic content in terms of probes on CMAs has progressively increased, leading to higher diagnostic yields and resolution of abnormalities [10, 14–17] with corresponding increases in clinical value of these tests [32–40]. In addition to guidelines on the clinical indications for CMA, ACMG has issued guidance on the appropriate content and design of such arrays and specifically opined that “it is desirable to have enrichment of probes targeting dosage-sensitive genes known to result in phenotypes consistent with common indications for a genomic screen (e.g., intellectual disability, developmental delays, autism, and congenital anomalies)” [18].…”

“…Microarrays of various designs and reflective of variable genomic content have been applied to the clinical care of individuals with these conditions; as such, there are varying degrees of diagnostic yield with an increase over time as arrays have evolved [7–17]. The ACMG issued a guideline in 2011 on the optimal design of CMAs and recommended inclusion of additional probe content in areas of known relevance [18].…”

Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies

“…11,13, 42 Studies have estimated that at least 5 to 7% of individuals undergoing CMA testing, or approximately a third of those with a pathogenic finding, receive a result with specific implications for medical management. [33][34][35] Reviews of medical records demonstrate that clinicians are basing medical management decisions on outcomes of CMA, [36][37][38] thus supporting the clinical utility of the test. It is possible that these implications for medical management may be due to what is considered an "incidental" finding, or a finding that is unrelated to the reason for testing.…”

“…It will also discuss the clinical use of CMA testing, where its diagnostic utility has made it a recommended first-tier test for many individuals presenting for genetic or neurologic evaluation. 11,14,31,32 Its increased clinical use has yielded evidence for clinical utility, [33][34][35][36][37][38] although some payers and specialists feel formal evidence is still lacking. [39][40][41] …”