The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care

Kaul, Karen L.; Sabatini, Linda M.; Tsongalis, Gregory J.; Caliendo, Angela M.; Olsen, Randall J.; Ashwood, Edward R.; Bale, Sherri; Benirschke, Robert; Carlow, Dean; Funke, Birgit H.; Grody, Wayne W.; Hayden, Randall T.; Hegde, Madhuri; Lyon, Elaine; Murata, Kazunori; Pessin, Melissa; Press, Richard D.; Thomson, Richard B.

According the Genetic Test Registry, over 50 laboratories in the United States offer testing for FX (https://www.ncbi.nlm. nih.gov/gtr/; accessed 11-01-2016). Currently, all FX testing is performed as LDPs: No FDA-cleared assay is available. PCR primers and Southern blot reagents are available commercially as analyte-specific reagents (ASR) or as investigational use only. Clinical laboratories use these commercial reagents, or design primers or probes, combine them internally to develop the assay and establish performance characteristics. The ACMG has published standards and guidelines for clinical laboratories that perform this test. 98 Reference materials to standardize sizing were developed through the Genetic Testing Reference Material program 99 sponsored by the Centers for Disease Control and Prevention (CDC), the National Institute of Standards and Technology (https://www.nist.gov/node/ 608501, Accessed November 1, 2016), and the World Health Organization. 100 Proficiency testing through the CAP has demonstrated the excellent performance of clinical laboratories of this high-complexity LDP. 101