Molecular diagnostics in genodermatoses.

This article first addresses phenotypic characterization and classification with the use of online databases, considering concepts of clinical and genetic heterogeneity. Indications for genetic testing related to medical care and patient/family decision making are discussed. Standard genetic testing is reviewed, including resources for finding specialized laboratories, methods of gene analysis, and patient/family counseling. The benefits and challenges associated with multigene panels, array-based analysis (eg, copy number variation, linkage, and homozygosity), and whole-exome or whole-genome sequencing are then examined. Specific issues relating to molecular analysis of mosaic skin conditions and prenatal/preimplantation diagnosis are also presented. Use of the modern molecular diagnostics described herein enhance our ability to counsel, monitor, and treat patients and families affected by genodermatoses, with broader benefits of providing insights into cutaneous physiology and multifactorial skin disorders. PMID: 23174491 [PubMed - indexed for MEDLINE]
Source: Seminars in Cutaneous Medicine and Surgery - Category: Dermatology Tags: Semin Cutan Med Surg Source Type: research