Genetic Insights on Developmental Issues and Disabilities
Pediatric
Sometimes, a child may be born with intellectual disabilities or developmental conditions that that were not detected during pregnancy, becoming evident only after birth, or when the child’s development seems delayed. In some cases, the intellectual disabilities or developmental conditions are genetic. Uncovering the reasons for these conditions can often help parents and pediatricians provide better care for the child.
Pediatric Diagnostic Testing
Reveal® SNP Microarray can analyze chromosomes for changes that can explain certain birth defects, intellectual disabilities, and autism spectrum disorders.
Reveal® SNP Microarray
Reveal SNP microarray is an advanced technique that makes it possible to examine a patient’s chromosomes and allow for the detection of smaller changes in the amount of DNA.1,2
In addition to detecting small gains or losses of genetic material, Reveal SNP microarray can also show if a pair of chromosomes came from just one of the patient’s parents or whether a patient’s parents are closely related.1,2 These events may explain certain genetic disorders.1,2,3
Other testing options
In addition to diagnostic tests, we offer: noninvasive prenatal screening (NIPS/NIPT) and serum screening for Down syndrome and other conditions; carrier screening for disorders such as cystic fibrosis; and hereditary cancer screening.
References
- Tepperberg, J et al. Genomic imbalances, UPD and consanguinity identified by whole genome SNP microarray analysis. Abstract presented at: Annual Clinical Genetics Meeting; March 25-29, 2009; Tampa, FL.
- Schwartz, S et al. SNP array detection of additional clinically significant chromosomal abnormalities in patients with established cytogenetics abnormalities: An important factor in phenotypic variability. Abstract presented at: Annual Clinical Genetics Meeting; March 25-29, 2009; Tampa, FL.
- Sutcliff, JS. Insights into the pathogenesis of autism. Science 2008; 321:208-9.