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Cystic Fibrosis Genotyping Assay

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Product Name Quantity Order # Additional Information
Cystic Fibrosis V.3.0 1 4J92-66

Cystic Fibrosis Genotyping Assay (FDA IVD)

  • 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
Cystic Fibrosis Genotyping Assay (FDA IVD)

  • 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

Background

Cystic Fibrosis is an inherited genetic disorder that affects children and young adults. It is caused by a number of genetic mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The American College of Obstetricians and Gynecologists currently recommends that couples planning a pregnancy or seeking prenatal care be screened for cystic fibrosis gene mutations.

The CFTR gene comprises 27 exons and spans ~250 kb on the long arm of chromosome 7.

Since the cloning of the CFTR gene, more than 1300 mutations have been identified. Mutations in the CFTR protein affect the ability of epithelial cells to secrete chloride ions in response to cyclic AMP.

The Cystic Fibrosis Genotyping Assay includes three modules, details of which are listed below.

Benefits

  • Quality Controlled Reagents
  • High Specificity
  • Simple to use
  • Cost Effective

Technology Description

The Abbott Molecular Cystic Fibrosis Genotyping Assay reagents are based on Oligonucleotide Ligation Assay (OLA) technology. This technology combines target specific PCR amplification with OLA probes to produce allele specific fragments which can then be analyzed by electrophoretic Sequence Coded Separation (SCS).

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

OLA Overview

Products Included in Cystic Fibrosis Genotyping Assay
Product Name
 Quantity
Sample Prep Module
Purified DNA Diluent 1 x 11mL
Normal Human DNA 1 x 35µL
EDTA Blood Diluent 2 x 16mL
Cystic Fibrosis Genotyping Assay OLA Module
CF v3 Core OLA 1 x 500µl
CF v3 5/7/9T Reflex OLA 1 x 65µl
OLA Enzyme 1 x 32µl
CF v3 Exon 10 Reflex OLA 1 x 65µl
OLA ROX(TM) Size Standard 1 x 32µl
Cystic Fibrosis Genotyping Assay PCR Module
CF v3 PCR 1 x 275µl

Cystic Fibrosis Genotyping Assay - 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
Supplied as a separate reagent
  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. 2004. 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.

Cystic Fibrosis Literature

The following documents are available for download.

Cystic Fibrosis Genotyping Assay PDF

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