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Clinical experience with array CGH: case presentations from nine months of practice.
Alexis F Poss1, Paula C Goldenberg, Catherine W Rehder
1Department of Pediatrics, Division of Clinical Genetics, Duke University Medical Center, Durham, North Carolina 27516, USA. alexis.poss@duke.edu
American Journal of Medical Genetics. Part A
|August 15, 2006
Summary
Array comparative genomic hybridization (CGH) is a powerful tool for clinical genetics, identifying new diagnoses in 11 of 124 patients. This technology is ready for routine clinical use.
Area of Science:
- Genetics
- Genomic Technology
Background:
- Array comparative genomic hybridization (CGH) is a technology used in clinical genetics.
- Evaluating the utility of array CGH in a clinical setting is important for diagnostic advancements.
Observation:
- 124 individuals underwent array CGH testing over 9 months.
- The technology was offered to patients in a clinical genetics setting.
Findings:
- Array CGH identified a previously unsuspected diagnosis in 11 out of 124 patients.
- A suspected diagnosis was confirmed in three patients.
- One case revealed a polymorphic copy number variant.
Implications:
- Array CGH is an improved diagnostic tool for clinical genetics.
- The technology is suitable for routine implementation in clinical genetics practice.
- Detailed case studies of patients with unsuspected diagnoses are presented.