Genomic Applications in Inherited Genetic Disorders

Krock, Bryan L.; Mao, Rong; Tvrdik, Tatiana; Best, D. Hunter; Lyon, Elaine

doi:10.1007/978-3-319-96830-8_35

Cited by 1 publication

(1 citation statement)

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“…In recent years, however, most of this testing has been converted to NGS, which offers significant advantages in terms of analytic capabilities, quality, speed, and cost. 103 The repetitive sequence reads in a single region ensure an enhanced level of quality, and NGS assays can be designed to interrogate anything from small to large gene panels, whole exomes, and beyond, depending on the clinical need being addressed. Consensus guidelines for NGS assays have been developed by multiple professional societies and address the development, validation, and quality control of these assays.…”

Section: Next-generation Sequencing For Heritable Gene Panel Testingmentioning

confidence: 99%

The Case for Laboratory Developed Procedures

et al. 2017

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An explosion of knowledge and technology is revolutionizing medicine and patient care. Novel testing must be brought to the clinic with safety and accuracy, but also in a timely and cost-effective manner, so that patients can benefit and laboratories can offer testing consistent with current guidelines. Under the oversight provided by the Clinical Laboratory Improvement Amendments, laboratories have been able to develop and optimize laboratory procedures for use in-house. Quality improvement programs, interlaboratory comparisons, and the ability of laboratories to adjust assays as needed to improve results, utilize new sample types, or incorporate new mutations, information, or technologies are positive aspects of Clinical Laboratory Improvement Amendments oversight of laboratory-developed procedures. Laboratories have a long history of successful service to patients operating under Clinical Laboratory Improvement Amendments. A series of detailed clinical examples illustrating the quality and positive impact of laboratory-developed procedures on patient care is provided. These examples also demonstrate how Clinical Laboratory Improvement Amendments oversight ensures accurate, reliable, and reproducible testing in clinical laboratories.

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Section: Next-generation Sequencing For Heritable Gene Panel Testingmentioning

confidence: 99%