Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Genet Med. 2010 Nov;12(11):742-5. doi: 10.1097/GIM.0b013e3181f8baad.


Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study.

Publication types

  • Practice Guideline

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis*
  • Genetics, Medical / standards*
  • Humans
  • Oligonucleotide Array Sequence Analysis / standards*