INFINITI CFTR-31 Assay
- 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.
Sample Type and Volume:
- Uses 0.2 - 2.0 mL of peripheral whole blood in EDTA (purple top) tube.
- Requires 50 ng DNA / reaction
- Cystic fibrosis is the most common life-shortening disorder in the US.
- One in 31 Americans is a carrier of a defective CFTR gene.
- 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.
- 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.