| Autor: |
Bean LJH; Department of Human Genetics, Emory University, Atlanta, GA, USA.; EGL Genetics, Tucker, GA, USA., Funke B; Department of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston, MA, USA.; Veritas Genetics, Danvers, MA, USA., Carlston CM; School of Medicine, University of California, San Francisco, CA, USA., Gannon JL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Kantarci S; Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA., Krock BL; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zhang S; Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY, USA., Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, UT, USA.; ARUP Laboratories, University of Utah, Salt Lake City, UT, USA. |
| Abstrakt: |
Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included on gene panels vary widely between laboratories in gene content (e.g., number, reason for inclusion, evidence level for gene-disease association) and technical completeness (e.g., depth of coverage), standards that address technical and clinical aspects of gene panels are needed. This document serves as a technical standard for laboratories designing, offering, and reporting gene panel testing. Although these principles can apply to multiple indications for genetic testing, the primary focus is on diagnostic gene panels (as opposed to carrier screening or predictive testing) with emphasis on technical considerations for the specific genes being tested. This technical standard specifically addresses the impact of gene panel content on clinical sensitivity, specificity, and validity-in the context of gene evidence for contribution to and strength of evidence for gene-disease association-as well as technical considerations such as sequencing limitations, presence of pseudogenes/gene families, mosaicism, transcript choice, detection of copy-number variants, reporting, and disclosure of assay limitations. |
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