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CYSTIC FIBROSIS MUTATION STUDY (CF), NON BLOOD

Test Code: NCF32
Description: CF (Cystic Fibrosis) is the most common life-threatening autosomal recessive disorder in Caucasians and has an incidence of ~1:2000-3000 births in several ethnic groups. Counseling and carrier screening are recommended for anyone who is planning to have children. This CF screening test detects 39 CFTR mutations, including the 23 mutations that are currently recommended by the American Board of Medical Genetics (ABMG) and the American College of Obstetricians and Gynecologists (ACOG).

The CFTR gene is tested by polymerase chain reaction (PCR), Allele-specific primer extention (ASPE) and LuminexTM liquid microbead array platform detection.

Specific mutations tested: delta F508, delta I507,G542X, G551D, W1282X, N1303K, R553X, 621+1G>T, R117H, 1717-1G>A, A455E, R560T, R1162X, G85E, R334W, R347P, 711+1G>T, 1898+1G>A, 2184delA,1078delT, 3849+10kbC>T, 2789+5G>A, 3659delC, 2183AA>G, 3120+1G>A, 394delTT, R347H, V520F, S549R, S549N, 3876delA, 3905insT, Y122X, A559T, 1898+5G>T, 2307insA, Y1092S, M1101K, S1255X(A>G), S1255X (C>A).


 
 


 
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