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Guidelines for molecular karyotyping in constitutional genetic diagnosis.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2007 Nov; Vol. 15 (11), pp. 1105-14. Date of Electronic Publication: 2007 Jul 18. - Publication Year :
- 2007
-
Abstract
- Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This article identifies areas for which the technology seems matured and areas that require more investigations. Molecular karyotyping should be part of the genetic diagnostic work-up of patients with developmental disorders. For the implementation of the technique for other constitutional indications and in prenatal diagnosis, more research is appropriate. Also, the article aims to provide best practice guidelines for the application of array comparative genomic hybridisation to ensure both technical and clinical quality criteria that will optimise and standardise results and reports in diagnostic laboratories. In short, both the specificity and the sensitivity of the arrays should be evaluated in every laboratory offering the diagnostic test. Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories.
- Subjects :
- Child
Humans
Nucleic Acid Hybridization ethics
Nucleic Acid Hybridization genetics
Nucleic Acid Hybridization methods
Developmental Disabilities diagnosis
Developmental Disabilities genetics
Genomics ethics
Genomics methods
Karyotyping methods
Practice Guidelines as Topic standards
Prenatal Diagnosis ethics
Prenatal Diagnosis methods
Prenatal Diagnosis standards
Subjects
Details
- Language :
- English
- ISSN :
- 1018-4813
- Volume :
- 15
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 17637806
- Full Text :
- https://doi.org/10.1038/sj.ejhg.5201896