Guidelines

Medical Guidelines

The chromosomal microarray (CMA) used in FirstStepDx PLUS® is a recommended 1st tier test.

The American College of Medical Genetics (ACMG), the American Academy of Pediatrics (AAP) and other professional societies have published practice guidelines that support the use of chromosomal microarray analysis (CMA) in the initial evaluation of individuals with autism spectrum disorder, developmental delay/intellectual disability, or multiple congenital anomalies

     

Clinical Utility

Genetic testing has been shown to provide doctors and families with information that can influence a patient’s management and treatment.

Lineagen's FirstStepDx PLUS CMA has additional proprietary detection site content that increases by two-fold the detection rate of genetic markers associated with autism spectrum disorder (ASD). This two-fold increase in ASD sensitivity increases the overall sensitivity of Lineagen's FirstStepDx PLUS CMA to 20% - 25% for individuals with ASD, developmental delay / intellectual disability and/or multiple congenital anomalies as compared to the reported diagnostic yield of non-customized CMA tests of 15% - 20% for individuals with these same disorders.

An "abnormal" result has been shown to significantly influence a number of clinical management changes in individuals with ASD, developmental delay / intellectual disability and/or multiple congenital anomalies, including improved access to services and avoidance of other diagnostic and clinical testing. The three articles referenced below have recently been published in medical literature and highlight the clinical utility of CMA in individuals with DD/ID or ASD: