Laboratory Issues

Several kits for CF testing are commercially available. However, none of the ASRs include controls except the Third Wave Technologies Invader test, which does include some oligonucleotide controls. A complete set of controls for the ACMG/ACOG panel is not commercially available. The Coriell Cell Repository offers a set of DNAs that contains a complete set of the mutations in the ACMG/ ACOG panel. The repository also has DNA available for two of the three reflex polymorphisms, F508C and I506V, but not for I507V. Thus, laboratories will have difficulty validating assays using genomic DNA controls, and artificial controls will not be as useful for platforms that rely on elec-trophoretic separations. Availability of a public source of controls for all the mutations in the ACMG/ACOG mutation panel which is kept current with changes in the recommended mutation panel would be extremely useful for clinical laboratories. A proficiency testing program for CF is available from the CAP and is jointly administered by the ACMG and CAP.

References

1. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3:149-154.

2. Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001;3:168-176.

3. Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS. Cystic fibrosis carrier screening: Issues in implementation. Genet Med. 2002;4:407-409.

4. Rohlfs EM, Zhou Z, Sugarman EA. The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med. 2002;4:319-323.

5. Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing [erratum in: Genet Med. 2002;4:471]. Genet Med. 2002;4:379-391.

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