Read More: CMA is a first tier, guidelined test for developmental delay
Lineagen has chosen to focus its FirstStepDx PLUS testing option around chromosomal microarray technology (CMA) technology. The reason we've chosen this particular genetic test among the hundreds of available genetic tests is because this service is now a guideline recommendation by several medical organizations.
For example, in 2010, the American College of Medical Genetics recommended CMA instead of karyotype for children with certain developmental disabilities1. This includes children with developmental delay of unknown cause, children with intellectual disabilities and children with multiple congenital anomalies, and physical features that aren't readily recognized as being a specific genetic syndrome.
It's hard to accurately diagnose the cause of developmental disability
There are hundreds or even thousands of genetic syndromes, many of which have overlapping features which make it very difficult without the use of genetic testing technology to pinpoint exactly which syndrome a patient may have.
CMA is a tool that will help providers discern which form of developmental delay their patient has. In addition to this ACMG guideline recommendation, the American Academy of Pediatrics began recommending CMA as a first line genetic test in August of 2014 for patients with developmental delay and intellectual disability2.
1. Miller D, Ledbetter D, (2010) Consensus Statement Chromosomal Microarray is a First Tier Clinical Diagnostic Test for Individuals With Developmental Disabilities or Congenital Anomolies. The American Journal of Human Genetics, 86, 749-764
2. Moeschler JB, Shevell M; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014 Sep;134(3):e903-18