Standard or basic pathogenic variant panel |
F508del-CFTR, I507del, 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, 3849+10kbC>T, 2789+5G>A, 3659delC, 3120+1G>A |
Reflex tests |
I506V*, I507V*, F508C*, 5T/7T/9T¶ |
CF: cystic fibrosis.
* Benign variants. This test distinguishes between the F508del-CFTR pathogenic variant and these benign variants. I506V, I507V, and F508C testing is performed only as reflex tests for unexpected homozygosity for F508del-CFTR and/or I507del.
¶ 5T/7T/9T analysis is performed only when R117H is detected for the following reasons: The R117H variant can result in classic CF only if there is a 5T variant on the same chromosome and another CF variant on the opposite chromosome. R117H on one chromosome and 5T or 7T on the opposite chromosome or homozygosity for 5T (5T on each chromosome) can result in congenital bilateral absence of the vas deferens (CBAVD).Do you want to add Medilib to your home screen?