False-positive results using a Gaucher diagnostic kit--RecTL and N370S

Mol Genet Metab. 2010 May;100(1):100-2. doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4.


The Pronto Gaucher kits and Pronto Gaucher RecTL Amplification Mix, marketed to identify mutations in the gene for glucocerebrosidase, are widely used for the diagnosis of Gaucher disease. Subjects genotyped using this kit have been reported with an allele including both the common N370S mutation and RecTL, a previously described Gaucher mutation arising from recombination between the glucocerebrosidase gene and pseudogene. Using direct sequencing and real-time PCR, we show that the RecTL, N370S allele is a false positive result, demonstrating possible pitfalls of diagnostic kits.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • False Positive Reactions*
  • Gaucher Disease / diagnosis*
  • Glucosylceramidase / genetics*
  • Humans
  • Reagent Kits, Diagnostic*


  • Reagent Kits, Diagnostic
  • Glucosylceramidase