Cystic Fibrosis Genotyping Assay

Cystic fibrosis (CF) is an inherited chronic respiratory disease that affects children and adults. Guidelines for population-wide screening for CF mutations in pre-pregnancy were published by the American College of Medical Genetics (ACMG) in 2001 and 2004.

The Cystic Fibrosis Genotyping Assay is a qualitative in vitro diagnostic device used to genotype a panel of mutations and variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human whole blood specimens. Cleared by the US Food and Drug Administration (FDA) in 2007, Celera’s CF assay is also CE Marked and available world-wide.

The panel includes mutations and variants recommended by the American College of Medical Genetics (ACMG, 2004) and the American College of Obstetricians and Gynecologists (ACOG, 2005), plus additional multiethnic mutations and variants.

The Cystic Fibrosis Genotyping Assay provides information intended to be used for carrier screening in adults of reproductive age, as an aid in newborn screening, and in confirmatory diagnostic testing in newborns and children.

Core CFTR Mutation Panel (32)
1078delT	394delTT	R1162X
1717-1G>A	621+1G>T	R117H
1898+1G>A	711+1G>T	R334W
2183AA>G	A455E	R347H
2184delA	delF508	R347P
2789+5G>A	delI507	R553X
3120+1G>A	G542X	R560T
3659delC	G551D	S549N
3849+10kbC>T	G85E	S549R
3876delA	N1303K	V520F
3905insT		W1282X
Variants
5/7/9T (Reflex)
I506V/I507V/F508C (Reflex)

For more product information, contact your local Abbott Molecular representative http://www.abbottmolecular.com/