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.
Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA. mmanning@stanford.edu
Melanie
M
Manning
Louanne
L
Hudgins
D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis*; D005826:Genetics, Medical / Q000592:standards*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000592:standards*