Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders

Morbidity and Mortality Weekly Report

Volumn 61, Issue RR-2, 2012, Pages 1-37

  Chen, Bin ^a   Mei, Joanne ^b   Kalman, Lisa ^a   Shahangian, Shahram ^a   Williams, Irene ^a   Gagnon, Mari Beth ^a   Bosse, Diane ^a   Ragin, Angela ^a   Cuthbert, Carla ^b   Zehnbauer, Barbara ^a  

^a Division of General Internal Medicine   (United States)

^b NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENETIC SCREENING; GENETICS; HEALTH CARE QUALITY; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY; NEWBORN; NEWBORN SCREENING; QUALITY CONTROL; STANDARD; UNITED STATES;

GENETIC TESTING; HUMANS; INFANT, NEWBORN; LABORATORIES; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; QUALITY ASSURANCE, HEALTH CARE; QUALITY CONTROL; UNITED STATES;

EID: 84859640963     PISSN: 01492195     EISSN: 1545861X     Source Type: Journal    
DOI: None     Document Type: Article

References (116)

1. Raghuveer TS, Garg U, Graf WD. Inborn errors of metabolism in infancy and early childhood: an update. Am Fam Physician 2006;73: 1981-90.
2. Association of Public Health Laboratories. Newborn screening and genetics. Silver Spring, MD: Association of Public Health Laboratories; 2010. Available at http://www.aphl.org/aphlprograms/nsg/pages/default.aspx. Accessed February 2, 2012.
3. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P. Newborn screening: toward a uniform screening panel and system. Genet Med 2006;8(Suppl 1):1S-252S.
4. CDC. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR 2009;58(No. RR-6).
5. McGovern MM, Benach M, Wallenstein S, Boone J, Lubin IM. Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States. Arch Pathol Lab Med 2003;127:71-6.
6. National Center for Biotechnology Information. GeneTests. Seattle, WA: National Center for Biotechnology Information; 2012. Available at http://www.ncbi.nlm.nih.gov/sites/genetests/?db=genetests. Accessed February 2, 2012.
7. College of American Pathologists. Biochemical genetic testing proficiency survey summary reports. 2006.
8. CDC. Using tandem mass spectrometry for metabolic disease screening among newborns: a report of a work group. MMWR 2001;50(No. RR-3).
9. National Newborn Screening and Genetics Resource Center. National newborn screening status report. Austin, TX: National Newborn Screening and Genetics Resource Center; 2011. Available at http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed February 2, 2012.
10. Response of the Secretary of Health and Human Services to the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, May 21, 2010. Available at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/correspondence/uniformpanelsecre052110.pdf. Accessed February 2, 2012.
11. Dietzen DJ, Rinaldo P, Whitley RJ, et al. National Academy of Clinical Biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin Chem 2009;55:1615-26.
12. Public Health Service Act, 42 U.S.C. Sect. 263(a) (1999). Available at http://wwwn.cdc.gov/clia/pdf/phsa_353.pdf. February 2, 2012.
13. Centers for Medicare & Medicaid Services. 42 C.F.R. Part 493. Laboratory Requirements: Clinical Laboratory Improvement Amendments of 1988. Available at http://wwwn.cdc.gov/clia/regs/toc.aspx. Accessed February 2, 2012.
14. CDC. Clinical Laboratory Improvement Advisory Committee (CLIAC). Available at http://wwwn.cdc.gov/cliac/default.aspx. Accessed February 2, 2012.
15. Cowan TM, Strovel ET. Management and quality assurance in the biochemical genetics laboratory. Curr Protoc Hum Genet 2008;17.7.1-17.7.12
16. Hertzberg MS, Mammen J, McCraw A, Nair SC, Srivastava A. Achieving and maintaining quality in the laboratory. Haemophilia 2006;12(Suppl 3):61-7.
17. Clinical and Laboratory Standards Institute. Application of a quality management system model for laboratory services; approved guideline, 4th ed. Wayne, PA: Clinical and Laboratory Standards Institute; Publication no. GP26-A4; 2011.
18. American College of Medical Genetics. Standards and guidelines for clinical genetics laboratories: clinical biochemical genetics. Bethesda, MD: American College of Medical Genetics; 2008. Available at http://www.acmg.net/pages/acmg_activities/stds-2002/f.htm. Accessed February 2, 2012.
19. Peters V, Garbade SF, Langhans CD, et al. Qualitative urinary organic acid analysis: methodological approaches and performance. J Inherit Metab Dis 2008;31:690-6.
20. Fowler B, Burlina A, Kozich V, Vianey-Saban C. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. J Inherit Metab Dis 2008;31:680-9.
21. Jenny RW, Jackson KY. Proficiency test performance as a predictor of accuracy of routine patient testing for theophylline. Clin Chem 1993;39:76-81.
22. Parsons PJ, Reilly AA, Esernio-Jenssen D, et al. Evaluation of blood lead proficiency testing: comparison of open and blind paradigms. Clin Chem 2001;47:322-30.
23. Dequeker E, Cassiman JJ. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur J Hum Genet 1998;6:165-75.
24. European Research Network for Evaluation and Improvement of Screening, Diagnosis, and Treatment of Inherited Disorders of Metabolism (ERNDIM), Sheffield, UK. Available at http://www.erndim.unibas.ch. Accessed February 2, 2012.
25. College of American Pathologists. 2011 surveys & anatomic pathology education programs. Northfield, IL: College of American Pathologists. Available at http://www.cap.org/apps/docs/proficiency_testing/2011_surveys_catalog.pdf. Accessed February 2, 2012.
26. Clinical and Laboratory Standards Institute. Assessment of laboratory tests when proficiency testing is not available; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. GP29-A2; 2008.
27. College of American Pathologists. Sample exchange registry for alternative assessment. Northfield, IL: College of American Pathologists. Available at http://www.cap.org/apps/docs/laboratory_resources/exchangeregistry/material_submission_form.pdf. Accessed February 2, 2012.
28. McGovern MM, Benach MO, Wallenstein S, Desnick RJ, Keenlyside R. Quality assurance in molecular genetic testing laboratories. JAMA 1999;281:835-40.
29. European Research Network for Evaluation and Improvement of Screening, Diagnosis, and Treatment of Inherited Disorders of Metabolism (ERNDIM). The Eurogentest project and ERNDIM. Interim report on biochemical genetic testing in Europe: deficits and needs and EQA. Sheffield, UK: ERNDIM. Available at http://www.erndim.unibas.ch/Meeting_Rep/06_dec_basel/Best%20practice%20EUGT%20UPDATED%20report%203Sept2007.pdf. Accessed February 2, 2012.
30. De Jesús VR, Mei JV, Bell CJ, Hannon WH. Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for disease Control and Prevention. Semin Perinatol 2010;34:125-33.
31. McCallister T, Himstedt L, Ross L, et al; Newborn Screening Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative. The heartland good spot/bad spot project. Presented at the 2010 National Newborn Screening and Genetic Testing Symposium, Orlando, FL; May 2010. Available at http://www.heartlandcollaborative.org/annualconference/documents/GoodSpotandBadSpot--McCallister.pdf. Accessed February 7, 2012.
32. National Newborn Screening and Genetics Resource Center. Austin, TX; 2011. Available at http://genes-r-us.uthscsa.edu. Accessed February 2, 2012.
33. Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev 2006;12:255-61.
34. Therrell BL, Hannon WH. National evaluation of U.S. newborn screening system components. Ment Retard Dev Disabil Res Rev 2006;12:236-45.
35. CDC. Laboratory standardization and quality assurance programs: newborn screening quality assurance program. Atlanta, GA: CDC; 2012. Available at http://www.cdc.gov/labstandards/nsqap.html. Accessed February 2, 2012.
36. Abhyankar S, Lloyd-Puryear MA, Goodwin R, et al. Standardizing newborn screening results for health information exchange. AMIA Annu Symp Proc 2010:1-5.
37. National Library of Medicine. Newborn screening coding and terminology guide: data standards for electronic reporting. Bethesda, MD: National Library of Medicine; 2011. Available at http://newbornscreeningcodes.nlm.nih.gov/hl7. Accessed February 2, 2012.
38. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and results reporting using health information exchange. J Am Med Inform Assoc 2010;17:13-8.
39. Public Health Informatics Institute. Newborn dried blood spot (NDBS) screening implementation guide for laboratory orders, U.S. realm. Decatur, GA: Public Health Informatics Institute; 2011. Available at http://www.phii.org/sites/default/files/resource/pdfs/PHII-NDBS-Lab-Orders-Impl-Guide-OML%5EO21-HL7-251_v1%200%201_2011-10-12_final.pdf. Accessed March 15, 2012.
40. Public Health Informatics Institute. Newborn dried blood spot (NDBS) screening implementation guide for laboratory results, U.S. realm. Decatur, GA: Public Health Informatics Institute; 2011. Available at http://www.phii.org/sites/default/files/resource/pdfs/PHII-NDBS-Lab-Results-Impl-Guide-ORU%5ER01-HL7-251_v1%200%201_2011-11-01_final.pdf. Accessed March 15, 2012.
41. Hannon WH, Lim T, Adam B, Therrell B. Outcomes from tandem mass spectrometry (MS/MS) workshops in the United States and the performance evaluation of MS/MS laboratories. Southeast Asian J Trop Med Public Health 2003; 34(Suppl 3):121-6.
42. Hoeltge GA, Phillips MG, Styer PE, Mockridge P. Detection and correction of systematic laboratory problems by analysis of clustered proficiency testing failures. Arch Pathol Lab Med 2005;129:186-9.
43. Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007;30:585-92.
44. Rinaldo P, Hahn S, Matern D. Clinical biochemical genetics in the twenty-first century. Acta Paediatr Suppl 2004;93:22-6.
45. Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D. Newborn screening of metabolic disorders: recent progress and future developments. Nestle Nutr Workshop Ser Pediatr Program 2008;62:81-93.
46. Rinaldo P, Tortorelli S, Matern D. Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Opin Pediatr 2004;16:427-33.
47. Tan IK, Gajra B, Lim MS. External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders. Ann Acad Med Singapore 2006;35:688-93.
48. Therrell BL, Hannon WH, Pass KA, et al. Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services. Biochem Mol Med 1996;57:116-24.
49. Barshop BA, Greene CL. Laboratory referral practices in biochemical genetics in the United States. Mol Genet Metab 2009;98:149-51.
50. New York State Department of Health. Approved laboratories. Albany, NY: New York State Department of Health, 2012. Available at http://www.wadsworth.org/labcert/clep/CategoryPermitLinks/CategoryListing.htm. Accessed February 2, 2012.
51. Washington State Department of Health. Office of Laboratory Quality Assurance. Olympia, WA: Washington State Department of Health; 2011. Available at http://doh.wa.gov/hsqa/fsl/lqa_home.htm. Accessed February 2, 2012.
52. CDC. Newborn Screening Quality Assurance Program: 2010 annual summary report. Atlanta, GA: CDC; 2011. Available at http://www.cdc.gov/labstandards/pdf/nsqap/nsqap_summaryreport_2011.pdf. Accessed February 2, 2012.
53. CDC. Impact of expanded newborn screening-United States, 2006. MMWR 2008;57:1012-15.
54. European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM). ERNDIM schemes. Sheffield, UK: ERNDIM, 2012. Available at http://cms.erndimqa.nl/home.aspx. Accessed February 7, 2011.
55. Society for Inherited Metabolic Disorders. Listing of laboratories and tests in biochemical genetics (UCSDW3BG). West Linn, OR; 2010.
56. American College of Medical Genetics. Standards and guidelines for clinical genetics laboratories. Bethesda, MD: American College of Medical Genetics; 2008. Available at http://www.acmg.net/am/template.cfm?Section=laboratory_standards_and_guidelines&template=/cm/htmldisplay.cfm&contentid=3136. Accessed March 15, 2012.
57. Clinical and Laboratory Standards Institute. Evaluation of precision performance of quantitative measurement methods; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. EP5-A2; 2004.
58. Clinical and Laboratory Standards Institute. Interference testing in clinical chemistry; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. EP07-A2; 2005.
59. Clinical and Laboratory Standards Institute. Method comparison and bias estimation using patient samples; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. EP9-A2; 2002.
60. Clinical and Laboratory Standards Institute. Evaluation of matrix effects; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. EP14-A2; 2005.
61. Clinical and Laboratory Standards Institute. Protocols for determination of limits of detection and limits of quantitation; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute; Publication no. EP17-A; 2004.
62. Clinical and Laboratory Standards Institute. Estimation of total analytical error for clinical laboratory methods; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. EP21-A; 2003.
63. Clinical and Laboratory Standards Institute. Defining, establishing and verifying reference intervals in the clinical laboratory; approved guideline, 3rd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. C28-A3; 2008.
64. Clinical and Laboratory Standards Institute. Gas chromatography/mass spectrometry (GC/MS) confirmation of drugs; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. C43-A2; 2010.
65. Clinical and Laboratory Standards Institute. Mass spectrometry in the clinical laboratory: general principles and guidance; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. C50-A2; 2007.
66. Clinical and Laboratory Standards Institute. Continuous quality improvement: integrating five key quality systems; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. GP22-A2; 2004.
67. Clinical and Laboratory Standards Institute. Using proficiency testing to improve the clinical laboratory; approved guideline, 2nd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. GP27-A2; 2007.
68. Clinical and Laboratory Standards Institute. Development and use of quality indicators; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. GP35-A; 2010.
69. Clinical and Laboratory Standards Institute. Blood collection on filter paper for newborn screening programs; approved guideline, 5th ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. LA4-A5; 2007.
70. Clinical and Laboratory Standards Institute. Newborn screening follow-up; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. ILA27-A; 2006.
71. Clinical and Laboratory Standards Institute. Newborn screening for preterm, low birth weight, and sick newborns; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. ILA31-A; 2009.
72. Clinical and Laboratory Standards Institute. Newborn screening by tandem mass spectrometry; proposed guideline. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. ILA32-P; 2009.
73. Clinical and Laboratory Standards Institute. Collection, transport, preparation, and storage of specimens for molecular methods; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. MM13-A; 2005.
74. Centers for Medicare & Medicaid Services. Clinical Laboratory Improvement Amendments: Appendix C: survey procedures and interpretive guidelines for laboratories and laboratory services. Baltimore, MD: Centers for Medicare & Medicaid Services; 2011. Available at http://www.cms.gov/clia/03_interpretive_guidelines_for_laboratories.asp. Accessed February 2, 2012.
75. Food and Drug Administration. Guidance for industry and FDA staff. Commercially distributed analyte specific reagents (ASRs): frequently asked questions. Silver Spring, MD: Food and Drug Administration; 2007. Available at http://www.fda.gov/downloads/medicaldevices/deviceregulationandguidance/guidancedocuments/ucm071269.pdf. Accessed February 2, 2012.
76. Food and Drug Administration. Guidance for industry and FDA staff. Class II special controls guidance document: newborn screening test systems for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. Silver Spring, MD: Food and Drug Administration; 2004. Available at http://www.fda.gov/downloads//medicaldevices/deviceregulationandguidance/guidancedocuments/ucm071031.pdf. Accessed February 2, 2012.
77. New York State Department of Health. Clinical laboratory evaluation program: survey standards. Albany, NY: New York State Department of Health; 2012. Available at http://www.wadsworth.org/labcert/clep/standards.htm. Accessed February 2, 2012.
78. State of Washington Department of Health. Chapter 246-338 WAC: medical test site rules. Olympia, WA: Washington State Department of Health; 2006. Available at http://www.doh.wa.gov/hsqa/fsl/documents/lqa_docs/wac-changes-4-03-07.pdf. Accessed February 2, 2012.
79. College of American Pathologists. Commission on Laboratory Accreditation. Chemistry and toxicology checklist. Washington, DC: College of American Pathologists; 2006. Available at http://www.pipettecal.com/cap%20checklist.pdf. Accessed February 2, 2012.
80. College of American Pathologists. Commission on Laboratory Accreditation. Molecular pathology checklist. Washington, DC: College of American Pathologists; 2007. Available at http://www.cap.org/apps/docs/laboratory_accreditation/checklists/molecular_pathology_sep07.pdf. Accessed February 2, 2012.
81. College of American Pathologists. Laboratory accreditation standards relating to ensuring clinical validity of genetic tests. Washington, DC: College of American Pathologists; 2010.
82. College of American Pathologists. Commission on Laboratory Accreditation. Laboratory general checklist. Washington, DC: College of American Pathologists; 2007. Available at http://www.cap.org/apps/docs/laboratory_accreditation/checklists/laboratory_general_sep07.pdf. Accessed February 2, 2012.
83. National Newborn Screening & Genetics Resource Center. Performance evaluation and assessment scheme (PEAS) for newborn screening systems. Austin, TX: National Newborn Screening and Genetics Resource Center; 2006. Available at http://genes-r-us.uthscsa.edu/nbs_peas.htm. Accessed February 2, 2012.
84. International Organization for Standardization. ISO 15189: medical laboratories-particular requirements for quality and competence. Geneva, Switzerland: International Organization for Standardization; 2007.
85. Organisation for Economic Co-operation and Development. OECD guidelines for quality assurance in molecular genetic testing. Paris, France: Organisation for Economic Co-operation and Development; 2007. Available at http://www.oecd.org/dataoecd/43/6/38839788.pdf. Accessed February 2, 2012.
86. European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM). Quality control in inherited disorders of metabolism (IDM) laboratories: ERNDIM schemes and theoretical aspects. Sheffield, UK: ERNDIM; 2002. Available at http://www.erndim.unibas.ch/pdf/aspect.pdf. Accessed February 2, 2012.
87. CDC. Clinical Laboratory Improvement Advisory Committee (CLIAC). September 10-11, 2008: meeting summary. Atlanta, GA: CDC; 2008. Available at http://wwwn.cdc.gov/cliac/cliac0908.aspx. Accessed February 2, 2012.
88. Federal Advisory Committee Act of 1972. Pub. L. No. 92-463, 5 U.S.C. app (1972). Available at http://www.gsa.gov/graphics/ogp/without_annotations_R2G-b4T_0Z5RDZ-i34K-pR.pdf. Accessed February 2, 2012.
89. CDC. Clinical Laboratory Improvement Advisory Committee (CLIAC). February 9-10, 2010: meeting summary. Atlanta, GA: CDC; 2010. Available at http://wwwn.cdc.gov/cliac/cliac0210.aspx. Accessed February 2, 2012.
90. International Organization for Standardization. ISO 9001: Quality management systems-requirements. Geneva, Switzerland: International Organization for Standardization; 2008.
91. International Organization for Standardization. ISO 17025: General requirements for the competence of testing and calibration laboratories. Geneva, Switzerland: International Organization for Standardization; 2005.
92. Clinical and Laboratory Standards Institute. Laboratory documents: development and control; approved guideline. 5th ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. GP2-A5; 2006.
93. Clinical and Laboratory Standards Institute. Training and competence assessment; approved guideline. 3rd ed. Wayne, PA: Clinical and Laboratory Standards Institute. Publication no. GP21-A3; 2009.
94. Whitely RJ, Hannon WH, Dietzen DJ, Rinaldo P. Pre-analytical, analytical, and post-analytical issues related to follow-up testing of positive newborn screens [Chapter 2]. In: Bennett MJ, editor. Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry. Washington, DC: National Academy of Clinical Biochemistry; 2009. Available at http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/documents/expandednewbornchapter2.pdf. Accessed February 2, 2012.
95. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med 2007;9:665-74.
96. Burke W. Clinical validity and clinical utility of genetic tests. Curr Protoc Hum Genet 2009; Chapter 9: Unit 9.15.
97. Grosse SD, Kalman L, Khoury MJ. Evaluation of the validity and utility of genetic testing for rare diseases. Adv Exp Med Biol 2010;686:115-31.
98. National Newborn Screening and Genetics Resource Center. National newborn screening information system database. Austin, TX: National Newborn Screening and Genetics Resource Center; 2012. Available at http://nnsis.uthscsa.edu/xreports.aspx?xreportid=5. Accessed February 2, 2012.
99. McHugh DM, Cameron CA, Abdenur JE, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011;13:230-54.
100. National Conferences of State Legislatures. Genetic privacy laws. Washington, DC: National Conferences of State Legislatures; 2008. Available at http://www.ncsl.org/issuesresearch/health/geneticprivacylaws/tabid/14287/default.aspx. Accessed February 2, 2012.
101. The Commonwealth of Massachusetts. Title XVI: public health. Available at http://www.malegislature.gov/laws/generallaws/parti/titlexvi/chapter111/section70g. Accessed February 2, 2012.
102. Legislative Council, State of Michigan. Public Health Code (Excerpt) Act 368 of 1978. Sect. 333.17520 (2000). Available at http://www.legislature.mi.gov/(S(0em5or45cvz1tjqiyyqte1vv)/documents/mcl/pdf/mcl-333-17520.pdf. Accessed February 2, 2012.
103. Nebraska Legislature. Sect. 71.551 as amended (2012). Available at http://www.legislature.ne.gov/laws/statutes.php?statute=s7105051000. Accessed February 2, 2012.
104. New York State. Civil Rights Law, Sect. 79-I (2002). Available at http://www.wadsworth.org/labcert/regaffairs/clinical/79-l_1_2002.pdf. Accessed February 2, 2012.
105. South Dakota Legislature. Chapter 34-14-22. S.L. 2001. Chapter 184, Sect. 2. Available at http://legis.state.sd.us/statutes/displaystatute.aspx?statute=34-14-22&type=statute. Accessed February 2, 2012.
106. Holtzman NA. Promoting safe and effective genetic tests in the United States: work of the task force on genetic testing. Clin Chem 1999;45:732-8.
107. Texas Department of State Health Services. Newborn screening-use and storage of dried blood spots after NBS. Austin, TX: Texas Department of State Health Services; 2011. Available at http://www.dshs.state.tx.us/lab/nbsbloodspots.shtm. Accessed February 2, 2012.
108. Minnesota Department of Health. Minnesota newborn screening program: parental options. St. Paul, MN: Minnesota Department of Health; 2010. Available at http://www.health.state.mn.us/newbornscreening/optout.html. Accessed February 2, 2012.
109. Centers for Medicare & Medicaid Services. Laboratory demographics lookup. Baltimore, MD: Centers for Medicare & Medicaid Services; 2012. Available at http://www.cms.gov/clia/20_clia_laboratory_demographic_information.asp#topofpage. Accessed February 2, 2012.
110. Food and Drug Administration, 21 C.F.R. Subchapter H-Medical devices. Part 820: Quality System Regulation. Silver Spring, MD: Food and Drug Administration, 2011. Available at http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfcfr/cfrsearch.cfm?cfrpart=820&showfr=1. Accessed February 2, 2012.
111. Centers for Medicare & Medicaid Services. CLIA approved proficiency testing programs. Baltimore, MD: Centers for Medicare & Medicaid Services; 2011. Available at http://www.cms.gov/clia/downloads/ptlist.pdf. Accessed February 2, 2012.
112. Centers for Medicare & Medicaid Services. Clinical Laboratory Improvement Amendment (CLIA) proficiency testing: dos and don'ts. Baltimore, MD: Centers for Medicare & Medicaid Services; 2008. Available at http://www.cms.gov/clia/downloads/cliabrochure8.pdf. Accessed February 2, 2012.
113. De Jesús VR, Lim TH, Meredith NK, et al. Proficiency testing results for low free carnitine and hydroxyisovalerylcarnitine by tandem mass spectrometry: impact of laboratory cutoff practices. Available at http://www.aphl.org/conferences/proceedings/documents/2010/2010_aphl_nbs_genetic_testing_symposium/029dejesus.pdf. Accessed February 2, 2012.
114. CDC. HIPAA privacy rule and public health: guidance from CDC and the U.S. Department of Health and Human Services. MMWR 2003;52(Suppl).
115. US Department of Health and Human Services. Does the HIPAA privacy rule permit doctors, nurses, and other health care providers to share patient health information for treatment purposes without the patient's authorization? Washington, DC: US Department of Health and Human Services; 2005. Available at http://www.hhs.gov/hipaafaq/providers/treatment/481.html. Accessed February 2, 2012.
116. Centers for Medicare & Medicaid Services. Certification boards for laboratory directors of high complexity testing. Baltimore, MD: Centers for Medicare & Medicaid Services; 2012. Available at http://www.cms.gov/clia/16_certification_boards_laboratory_directors.asp#topofpage. Accessed February 2, 2012.