INFINITI CFTR-31 Assay

  • The INFINITI CFTR-31 Assay is CE Marked.
  • The INFINITI CFTR-31 Assay is designed to identify CFTR genetic variants.
  • The INFINITI CFTR-31 Assay utilizes the CFTR-31 Intellipac, CFTR-31 Amp Mix and CFTR-31 BioFilmChip Microarray.
  • The INFINITI CFTR-31 Assay is automated by the INFINITI Analyzer.

Analytes Detected: 
  • G85E                       R117H                     I148T                      621+1G>T               711+1G>T               1078delT
  • R334W                    R347P                     A455E                     Delta I507               Delta F508             1717-1G>A
  • G542X                     G551D                     R553X                      R560T                      W1282X                  N1303K
  • 1898+1G>A             2184delA                 2789+5G>A             3120+1G>A             R1162X                    3659delC
  • 3849+10kbC>T

Reflex Tests

  • R117H heterozygous or homozygous variants will display reflex test Intron8 5T-7T-9T Delta I507 or Delta F508. Homozygous variants will display Exon10 I506V-I507V-F508C.
Features: 
  • Multiplexed determination of 25 genetic mutations and 6 reflex tests on one BioFilmChip Microarray
  • Automatic reporting of appropriate reflex test results
  • Load & Go automated on the INFINITI/INFINITI PLUS Analyzer.
  • Replicate determinations on a single BioFilmChip Microarray ensures quality results.

  • Built in reflex testing simplifies workflow.

Sample Type and Volume: 
  • Uses 0.2 - 2.0 mL of peripheral whole blood in EDTA (purple top) tube.
  • Requires 50 ng DNA / reaction
Clinical Relevance: 
  • Cystic fibrosis is the most common life-shortening disorder in the US.
  • One in 31 Americans is a carrier of a defective CFTR gene.
Clinical Utility: 
  • Genetic testing of 25 known markers for CFTR allows early detection of cystic fibrosis.
  • Testing for these markers in adults of reproductive age can serve as an aid in newborn screening for cystic fibrosis and also as a diagnostic test to confirm cystic fibrosis in newborns and children.
References: 
  1. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N; Iannuzzi; Kerem; Drumm; Melmer; Dean; Rozmahel; Cole; Kennedy; Hidaka; Zsiga; Buchwald; Riordan; Tsui; Collins (September 1989). "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science 245 (4922): 1059–65. Bibcode:1989Sci...245.1059R. doi:10.1126/science.2772657. PMID 2772657
  2. Riordan, JR; et al. (8 Sep 1989). "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA". Science 245 (4922): 1066–73. Bibcode:1989Sci...245.1066R. doi:10.1126/science.2475911. PMID 2475911.  Cite uses deprecated parameters (help)
  3. Childers M, Eckel G, Himmel A, Caldwell J (2007). "A new model of cystic fibrosis pathology: lack of transport of glutathione and its thiocyanate conjugates". Med. Hypotheses 68 (1): 101–12. doi:10.1016/j.mehy.2006.06.020. PMID 16934416.

INFINITI CFTR-31 Assay