Tag-It Cystic Fibrosis ( CF ) Kit is the first multiplexed human disease genotyping test to be cleared by the U.S. Food and Drug Administration ( FDA ) as an in vitro device ( IVD ) for diagnostic use in the United States.
This DNA based test is used to simultaneously detect and identify mutations and variants in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene in human blood specimens in order to determine cystic fibrosis carrier status in adults, as an aid in newborn screening, and in confirmatory diagnostic testing in newborns and children. Performance testing has established that the Tag-It CF Kit operates with 100% accuracy and greater than 99.9% reproducibility and precision.
Cystic fibrosis is the most common autosomal recessive disorder in the Caucasian population, with an incidence of approximately 1 in 3,200 live births. The Tag-It Cystic Fibrosis Kit simultaneously screens for the 23 cystic fibrosis transmembrane conductance regulator ( CFTR ) gene mutations and 4 variants ( polymorphisms ), as recommended by the American College of Medical Genetics ( ACMG ) and the American College of Obstetricians and Gynecologists ( ACOG ) in 2004. In addition, the kit screens for 16 additional mutations prevalent in North America or the world.
Accuracy of the Tag-It CF Kit was established in a method comparison study using DNA sequencing as reference methods.
Based on comparison of 2,924 genotyping calls for the 43 mutations and variants tested for by the Tag-It CF Kit, concordance between the Tag-It CF Kit and the reference tests was 100% .
Reproducibility was established as greater than 99.9% in a multi-site study by testing DNA samples obtained from the Coriell Institute for Medical Research repository.
Precision was tested using synthetic positive controls representing all potential genotyping calls for all 43 mutations and variants tested for by the Tag-It CF Kit.
Overall, study results showed that all genotyping calls that can be made by the Tag-It CF Kit were made correctly and reproducibly under the evaluated conditions with a precision of greater than 99.9%.
The kit is not indicated for fetal diagnostic, pre-implantation testing or for stand-alone diagnostic purposes.
Source: Tm Bioscience, 2005