Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
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.
Manning
Melanie
M
Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA. mmanning@stanford.edu
Hudgins
Louanne
L
D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis*; D005826:Genetics, Medical / Q000592:standards*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000592:standards*