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Cystic Fibrosis Genotyping Assay

For In Vitro Diagnostic Use
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Product Name Quantity Order # Additional Information

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-ROXTM 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
 06L20-01 Order
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 - ROXTM 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 06L20-07 Order

Product 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 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.

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

Cystic Fibrosis Genotyping Assay Workflow

Oligonucleotide Ligation Assay

Cystic Fibrosis Genotyping Assay Oligonucleotide Ligation Assay

Cystic Fibrosis Genotyping Assay IVD - Mutations Covered

ACMG-23 Additional Mutations
1898+1G>A
 N1303K R347H
2789+5G>A 711-+1G>T S549N
3849+10kb C>T
 R334W S549R
A455E 1717-1G>A V520F
R1162X W1282X 394deITT
R560T R117H 3876deIA
3120+1G>A 621+1G>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)

 

 

Links

  1. Visit the Cystic Fibrosis Mutation Database (http://www.genet.sickkids.on.ca/cftr/app) maintained by the laboratory of Lap-Chee Tsui on behalf of the international Cystic Fibrosis genetics research community.

Bibliography

 

  1. Preconception and Prenatal Carrier Screening for Cystic Fibrosis--Clinical and Laboratory Guidelines . October, 2001. ISBN 0-915473-74-7. The American College of Obstetricians and Gynecologists and American College of Medical Genetics
  2. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel . Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs E, Strom CM, Richards CS, Witt DR, Grody WW. Genetics in Medicine Vol. 6(5): 387-391, 2004.
  3. Standards and Guidelines for CFTR Mutation Testing. Carolyn Sue Richards, PhD, Linda A. Bradley, PhD, Jean Amos, PhD, Bernice Allitto, PhD, Wayne W. Grody, MD, PhD, Anne Maddalena, PhD, Matthew J. McGinnis, PhD, Thomas W. Prior, PhD, Bradley W. Popovich, PhD, and Michael S. Watson, PhD. Genetics in Medicine, Vol. 4(5): 379-391, 2002
  4. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.Wayne W. Grody, MD, PhD; Garry R. Cutting, MD; Katherine W. Klinger, PhD, Carolyn Sue Richards, PhD, Michael S. Watson, PhD, and Robert J. Desnick, PhD, MD (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG). Genetics in Medicine, Vol. 3(2) 149-154, 2001
  5. Newborn Screening for Cystic Fibrosis--Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs. Scott D. Grosse, PhD, Coleen A. Boyle, PhD, Jeffrey R. Botkin, MD, Anne Marie Comeau, PhD, Matin Kharrazi, PhD, Margaret Rosenfeld, MD, Benjamin S. Wilfond, MD. CDC MMWR October 15, 2004 / 53(RR13): 1-36.
  6. Newborn Screening for Cystic Fibrosis: Recommendations from the Centers for Disease Control and Prevention. Scott D. Grosse, PhD, Coleen A. Boyle, PhD, Jose F. Cordero, MD, MPH. American Family Physician, Vol 71(8):1482, 2005.
  7. CDC Releases Recommendations for State Newborn Screening Programs for Cystic Fibrosis. Matthew J. Neff. American Family Physician, Vol 71(8):1605-1610, 2005.
  8. Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis. [erratum appears in Genet Test 1998;2(4):385.][ Note:Iovannisci DA[corrected to Iovannisci DM]]. Brinson EC. Adriano T. Bloch W. Brown CL. Chang CC. Chen J. Eggerding FA. Grossman PD. Iovannisci DM. Madonik AM. Sherman DG. Tam RW. Winn-Deen ES. Woo SL. Fung S. Iovannisci DA. Genetic Testing. 1(1):61-8, 1997.
 

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:

  1. 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.
  2. 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.
  3. Additional information on assay limitations may be found in the Cystic Fibrosis Genotyping Assay Operator's Manual, Section 10.

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.

For In Vitro Diagnostic Use