Skip to main content
Log in

Quality control for selective screening of inborn errors of metabolism

  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosacharides are covered, as well as the assay of galactosse-1-phosphate. Participants are not only required to report the analytical results but to give an interpretation of the results as well. Sixteen rounds of testing have been completed. A slow, but definite improvement in performance can be observed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Baird PO, Anderson TW, Newcombe HB, Lowry RB (1988) Genetic disordes in children and young adults: a population study. Am J Hum Genet 42:677–693

    Google Scholar 

  2. Beaudet AL, Scriver CR, Sly WS, Valle D, McKusick VA, Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (1990) Introduction to human biochemical and molecular genetics. McGraw-Hill, New York

    Google Scholar 

  3. Belk WP, Sunderman FW (1947) A survey of the accuracy of chemical analysis in clinical alboratories. Am J Clin Pathol 17:853

    Google Scholar 

  4. Brimble A, Pennock C, Stone J (1990) Results of a quality assurance exercise for urinary glycosaminoglycan excretion. Ann Clin Biochem 27:133–138

    Google Scholar 

  5. Hommes F, Blitzer MG, Brewster MA, Burton BK, Buist NRM, Colombo JP, Elsas LJ, Goldsmith BM, Hammond J, Kruckeberg WG, Leichtman LG, Ling KI, Markin RS, Matalon R, Naylor EV, O'Brien WE, Roe CR, Roesel RA, Shapira E, Taylor HA, Tedesco TA, Thompson JN, Tocci PM, Ward JC, Wilson WC (1990) Proficiency testing for biochemical genetics laboratories. The first ten rounds of testing. AM J Hum Genet 46:1001–1004

    Google Scholar 

  6. Hommes FA (1991) The national biochemical genetics laboratories proficiency testing program. In: Wilkinson SL, Perry S (eds) Biotechnology and the diagnosis of genetic disease Georgetown University Press, Georgetown pp 53–54

    Google Scholar 

  7. Hommes FA (1991) Techniques in diagnostic human biochemical genetics. A laboratory manual. Wiley-Liss, New York

    Google Scholar 

  8. Howanitz JH, Howanitz PJ (1987) Introduction to quality assurance. In: Howanitz PJ (ed) Laboratory quality assurance. McGraw-Hill, New York, pp 1–19

    Google Scholar 

  9. Rattenbury JM, Worthy E, Allen JC (1988) Screening tests for glycosaminoglycans in urine: experience from regional interlaboratory surveys. J Clin Pathol 41:936–939

    Google Scholar 

  10. Report of the Subcommittee on quality assurance for biochemical genetics of the Conference of Regional Networks for Genetics Services USA (1988)

  11. Rippey JH (1987) Proficiency testing. In Howanitz PJ, Howanitz JH, Laboratory quality assurance. McGraw-Hill, New York, pp 317–333

    Google Scholar 

  12. Steward CE, Koepke JA (1987) External quality control testing: proficiency surveys. In: Basic quality assurance practices for clinical laboratories. Lippincott, Philadelphia, pp 101–110

    Google Scholar 

  13. Wadman SK (1991) Basic laboratory principles. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics. A laboratory manual. Wiley-Liss, New York, pp 1–6

    Google Scholar 

  14. Wright L, Warren R (1991) Transmitting genetic information. In Hommes FA (ed) Techniques in diagnostic human biochemical genetics. A laboratory manual. Wiley-Liss, New York, 1991, pp 19–29

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hommes, F.A. Quality control for selective screening of inborn errors of metabolism. Eur J Pediatr 153 (Suppl 1), S17–S22 (1994). https://doi.org/10.1007/BF02138772

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02138772

Key words

Navigation