Signature® CF 2.0 ASR*
Approximately 1 in 29 Caucasian North Americans carry a mutation for cystic fibrosis (CF)1, making CF the most common genetic disorder in this population. CF is a life-shortening, autosomal recessive condition characterized by abnormally thick and viscous mucus, excess sweat electrolytes, poor nutritional uptake, pancreatic endocrine insufficiency, and declining pulmonary function secondary to chronic lung infection.
The cloning of the cystic fibrosis transmembrane regulator (CFTR) gene in 1989, provided the capability of direct DNA analysis for heterozygote carriers of cystic fibrosis. In consideration of the benefits associated with neonatal screening for cystic fibrosis, the American College of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology (ACOG) recommended carrier screening in the general population for the 23rd most common mutation in the CFTR gene among reflex testing for six additional polymorphisms1.
- CFTR Mutation Screening
- CFTR Primary mutation panel based on ACMG/ACOG recommendation
- Single-tube multiplex amplification
- Direct hybridization using allele-specific capture probes
- Expandable to incorporate additional mutations
- Readily customizable
- ASR* Components
- CF Primers
- Primary Bead Mix
- Reflex Bead Mix
*Analyte Specific Reagent. Analytical and performance characteristics are not established.
Cystic Fibrosis References
1. CF Carrier Screening—Making It Meaningful. CAP Today 2003, 17:1, 34-41 [download pdf]
2. Dunbar SA, Vander Zee CA, Oliver KG, Karem KL, Jacobson JW: Quantitative, multiplexed detection of bacterial pathogens: DNA and protein applications of the Luminex LabMAP system. J Microbiol Methods 2003, 53:245-252
3. Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W. Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med. 2002, 4: 289-96
4. Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnisMJ, Prior TW, Popovich BW, Watson MS, Palomaki GE: Standards and guidelines for CFTR mutation testing. Genet Med 2002, 4:379-391
5. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001, 3:149-154
6. Farrell PM, Kosorok MR, Rock MJ, Laxova A, Zeng L, Lai HC, Hoffman G, Laessig RH, Splaingard ML: Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 2001, 107:1-13
7. Yang L, Tran DK, Wang X: BADGE, Beads Array for the Detection of Gene Expression, a high-throughput diagnostic bioassay. Genome Res 2001, 11:1888-1898
8. Armstrong B, Stewart M, Mazumder A: Suspension arrays for high throughput, multiplexed single nucleotide polymorphism genotyping. Cytometry 2000, 40:102-108
9. Fulton RJ, McDade RL, Smith PL, Kienker LJ, Kettman JR Jr: Advanced multiplexed analysis with the FlowMetrix system. Clin Chem 1997, 43:1749-1756
10. Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, Amos J, Highsmith WE, Shuber A, Witt DR, Crystal RG, Cutting GR: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5:274-278
11. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Iannuzzi MC, Collins FS, Tsui LC: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073
