Clinical Utility

• Williams syndrome
• Turner syndrome
• Angelman syndrome
• Chromosome 20p deletion
• Mosaic trisomy 21
• 17p12-p11.1 duplication
• Inv dup (15) syndrome
• High resolution CMA series

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

Lineagen's FirstStep^Dx 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 FirstStep^Dx 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:

• Saam J, Gudgeon J, et al. 2008. How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay. Genet Med. 2008:10(3):181–186.
• Coulter ME, Irons M, et al. 2011. Chromosomal microarray testing influences medical management. Genet Med. 2011 Jun 28.
• Ellison JW, et al. 2012. Clinical Utility of Chromosomal Microarray Analysis. Pediatrics 130:e1085-1095.