Cystic Fibrosis Genotyping Assay

For In Vitro Diagnostic Use

Description
Ordering Info

Description

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

The Cystic Fibrosis assay has an innovative technology that combines target amplification using PCR with oligonucleotide ligation assay (OLA) to produce allele-specific, fluorescent-labeled fragments which are then separated by capillary electrophoresis.

OLA exploits the ability of DNA ligases to join adjacent oligonucleotides covalently only when they perfectly complement a single-stranded DNA template.

This test is not indicated for use in fetal diagnostic or pre-implantation testing. This test is also not indicated for stand-alone diagnostic purposes.

Workflow

Oligonucleotide Ligation Assay

Detection on the Capillary Electrophoresis Platform

Cystic Fibrosis Genotyping Assay

(23 recommended by the ACMG plus an additional 9 multiethnic mutations with high prevalence)

ACMG-23		ADDITIONAL MUTATIONS
1898+1 G>A	N1303K	R347H
2789+5 G>A	711+1 G>T	S549N
3849+10kb C>T	R334W	S549R
A455E	1717-1 G>A	V520F
R1162X	W1282X	394delTT
R560T	R117H	3876delA
3120+1 G>A	621+1 G>T	3905insT
3659delC	R347P	2183AA>G
G551D	R553X	1078delT
G85E	2184delA
G542X	ΔI507
	ΔF508	F508C
Variants (tested as Reflex in accordance with ACMG guidelines; supplied with the kit)
	5/7/9T (Intron 8)	I506V, I507V and F508C (confirmation) (Exon 10)

Developed and Manufactured by Celera Corporation

Order Information

Product Name	Package Size	Vysis Order Number	Abbott Order Number
Cystic Fibrosis Genotyping Assay (48 Tests) CF Sample Diluent (2 x 1600 µL) CF PCR Reagent (1 x 275 µL) CF Core OLA (1 x 515 µL) OLA Enzyme (1 x 40 µL) OLA-ROX^TM Size Standard (1 x 40 µL) CFTR Wild Type Control (2 x 40 µL) CF 5/7/9T Reflex OLA (1 x 40 µL) CF Exon 10 Reflex OLA (1 x 90 µL)	48 tests	NA	06L20-01 6L20
Cystic Fibrosis Genotyping Assay (2304 Tests) CF Sample Diluent (6 x 7700 µL) CF PCR Reagent (12 x 980 µL) CF Core OLA (24 x 935 µL) OLA Enzyme (12 x 100 µL) OLA - ROX^TM Size Standard (12 x 100 µL) CFTR Wild Type Control (6 x 60 µL) CF 5/7/9T Reflex OLA (6 x 40 µL) CF Exon 10 Reflex OLA (6 x 340 µL)	2304 tests	NA	06L20-07 6L20

INTENDED USE

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. 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. 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.

This test is not indicated for use in fetal diagnostic or pre-implantation testing. This test is also not indicated for stand-alone diagnostic purposes.

LIMITATIONS:

The presence of certain interfering polymorphisms (benign nucleotide variations) or mutations (disease-causing nucleotide variations) not detected by the Cystic Fibrosis Genotyping Assay may affect the ability to detect alleles that are normally identifiable using this kit. As a result, the OLA product peak of a given allele (normal or mutant) may be diminished in height and produce an inappropriate genotype call.
The PCR reaction may be inhibited by commonly known inhibitors such as heme and phenol, as well as the presence of heparin when used as an anticoagulant in blood samples.

CAUTION:
United States Federal law restricts this device to sale and distribution to or on the order of a physician or to a clinical laboratory; and use is restricted to, by, or on the order of a physician.