Management and quality assurance in the biochemical genetics laboratory

Current Protocols in Human Genetics

Volumn , Issue SUPPL. 59, 2008, Pages

  Cowan, Tina M ^a   Strovel, Erin T ^b  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

Biochemical genetics; Genetics; Health care; Humans; Laboratory personnel standards; Medical; Quality assurance; Quality control

Indexed keywords

CLINICAL LABORATORY; CLINICAL PROTOCOL; DIAGNOSTIC ACCURACY; HEALTH CARE ORGANIZATION; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY PERSONNEL; MEDICAL EDUCATION; MOLECULAR GENETICS; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROFESSIONAL STANDARD; QUALITY CONTROL; REVIEW; TOTAL QUALITY MANAGEMENT; VALIDATION PROCESS;

EID: 58749115779     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg1707s59     Document Type: Review

References (13)

1. ACMG (American College of Medical Genetics) 2006. Standards and Guidelines for Clinical Genetics Laboratories, 2006 ed. ACMG, Bethesda, Md.
2. Hommes, F.A., Brewster, M.A., Burton, B.K., Buist, N.R., Elsas, L.J., Goldsmith, B.M., Hammond, J., Kruckeberg, W.C., Leichtman, L.G., Lin, K.T., Markin, R.S., Matalon, R., Naylor, E.W., O'Brien, W.E., Roe, C.R., Roesel, A.R., Shapira, A.R., Taylor, H.A., Tedesco, T.A., Thompson, J.N., Tocci, P.M., Ward, J.C., and Wilson, W.G. 1990. Proficiency testing for biochemical genetics laboratories: The first 10 rounds of testing. Am. J. Hum. Genet. 46:1001-1004.
3. Hommes, F.A. 1994. Quality control for selective screening of inborn errors of metabolism. Eur. J. Pediatr. 153:S17-22.
4. Hudson, K.L., Murphy, J.A., Kaufman, D.J., Javitt, G.H., Katsanis, S.H., and Scott, J. 2006. Oversight of US genetic testing laboratories. Nat. Biotechnol. 24:1083-1090.
5. McGovern, M.M., Benach, M., Wallenstein, S., Boone, J., and Lubin, I.M. 2003. Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States. Arch. Pathol. Lab Med. 127:71-76.
6. NCCLS (National Committee for Clinical Laboratory Standards) 2000. How to Define and Determine Reference Intervals in the Clinical Laboratory; Approved Guideline C28-A2, second edition. NCCLS, Wayne, Pa.
7. NCCLS 2002a. Assessment of Laboratory Tests When Proficiency Testing is Not Available; Approved Guideline GP29. NCCLS, Wayne, Pa.
8. NCCLS 2002b. Application of a Quality Management System Model for Laboratory Services; Approved Guideline GP26-A3. NCCLS, Wayne, Pa.
9. NCCLS 2004. Continuous Quality Improvement: Integrating Five Key Quality System Components; Approved Guideline GP22-A2. NCCLS, Wayne, Pa.
10. NCCLS 2006. Clinical Laboratory Technical Procedure Manuals; Approved Guideline GP2-A5, fifth edition. NCCLS, Wayne, Pa.
11. NHGRI (National Human Genome Research Institute) 1997. Promoting Safe and Effective Genetic Testing in the United States. http://www.genome.gov/10001733 NHGRI, Bethesda, Md.
12. Rinaldo, P., Cowan, T.M., and Matern, D. 2008. Acylcarnitine profile analysis. Genet. Med. 10:151-156.
13. Sherwin, J.E., Lockitch, G., Rosenthal, P., Rhone, S., Magee, L., Ashwood, E.R., Goldsmith, B.M., C.R., Geaghan, S., and Bennett, M. 2006. National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Maternal-Fetal Risk Assessment and Reference Values in Pregnancy. AACC (American Association of Clinical Chemistry) Press, Washington, D.C.