Effective test submission or referral procedures should then be established to prevent or minimize similar occurrences. GeneTests. GP22-A2; 2004. Dietzen DJ, Rinaldo P, Whitley RJ, et al. Certain test procedures are performed with single-channel or single-column instruments (e.g., amino acid analyses) on which the run time of each specimen might take a significant portion of a working day. Protecting People.™, Proficiency testing and interlaboratory comparison programs should consider, The newborn's identifying information (name, date of birth, and time of birth), place of birth, and national or local health number, Parent information (mother's name, home telephone number, and address if available), Required actions, including a repeat screen, confirmatory testing, clinical actions, and evaluation, as well as the timeline, steps, and instructions to complete the necessary actions, Instructions to notify the newborn screening program when the primary care provider has been unable to contact the parents or when the primary care provider has changed, Contact information (e.g., name, phone number, e-mail address, and fax number) for the follow-up personnel of the newborn screening program. Documentation of available clinical validity information will help laboratories performing biochemical genetic testing to fulfill their responsibilities for providing consultation to health-care professionals and other users of laboratory services. Laboratories may meet this requirement by participating in available proficiency testing programs for the biochemical genetic or newborn screening tests they perform (112). Clin Chem 1993;39:76–81. The laboratory director should be responsible for ensuring and demonstrating that the test system has stable accuracy and precision during the defined time period for both the control samples and patient specimens. Laboratories should monitor and document the extent to which specimen problems occur and develop measures to reduce the frequency of these problems. Available at, The Commonwealth of Massachusetts. Bethesda, MD: American College of Medical Genetics; 2008. The enzymes may be deficient … Accuracy is the closeness of agreement between an individual value and a true value. Clinical and Laboratory Standards Institute. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. Alternative assessment ideally should be performed by interlaboratory exchange or using externally derived materials. Washington, DC: National Academy of Clinical Biochemistry; 2009. Procedures for immediate reporting of results that are considered out of range or are indicative of a clinical emergency, including notification of the newborn's primary care provider and documentation of the reporting and report receipt, Procedures for obtaining a second, freshly collected specimen for confirmatory analysis for each abnormal screening result, Immediate reporting of unsuitable specimens to facilitate timely repeat testing, Laboratory responsibilities in the comprehensive system for follow-up of each positive screening result, including. Evaluate proficiency testing results reported by the proficiency testing program and take steps to investigate the causes for disparate results, including results that might indicate bias but are within acceptable ranges. Washington, DC: National Conferences of State Legislatures; 2008. § Secondary conditions are the genetic conditions that can be identified when screening for one of the core conditions or as a consequence of confirmatory testing for an out-of-range result of a core condition. Although data are limited, studies and reports since 2003 have revealed various concerns related to quality assurance practices in biochemical genetic testing, including test performance establishment, quality control procedures, proficiency testing, personnel qualifications and training, and results reporting (5,15,16). In specific situations, testing of nonideal specimens might be considered. For assistance, please send e-mail to: mmwrq@cdc.gov. Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Recommended uniform newborn screening panel*, Biopterin defect in cofactor biosynthesis, Biopterin defect in cofactor regeneration, Carnitine uptake defect (carnitine transport defect), Medium-chain acyl-CoA dehydrogenase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency, Short-chain acyl-CoA dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency, Carnitine palmitoyltransferase type I deficiency, Carnitine palmitoyltransferase type II deficiency, Carnitine acylcarnitine translocase deficiency, Methylmalonic acidemia (methylmalonyl-CoA, Methylmalonic acidemia (cobalamin disorders), 3-Methylcrotonyl-CoA carboxylase deficiency, Methylmalonic acidemia with homocystinuria.