INFINITI CFTR-31 Assay
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The INFINITI CFTR-31 Assay is CE Marked.
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The INFINITI CFTR-31 Assay is designed to identify CFTR genetic variants.
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The INFINITI CFTR-31 Assay utilizes the CFTR-31 Intellipac, CFTR-31 Amp Mix and CFTR-31 BioFilmChip Microarray.
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The INFINITI CFTR-31 Assay is automated by the INFINITI Analyzer.
Analytes Detected:
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G85E R117H I148T 621+1G>T 711+1G>T 1078delT
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R334W R347P A455E Delta I507 Delta F508 1717-1G>A
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G542X G551D R553X R560T W1282X N1303K
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1898+1G>A 2184delA 2789+5G>A 3120+1G>A R1162X 3659delC
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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:
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Multiplexed determination of 25 genetic mutations and 6 reflex tests on one BioFilmChip Microarray
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Automatic reporting of appropriate reflex test results
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Load & Go automated on the INFINITI/INFINITI PLUS Analyzer.
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Replicate determinations on a single BioFilmChip Microarray ensures quality results.
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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:
- 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.
- 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)
- 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.