Basic and expanded screening panels for cystic fibrosis

Standard or basic mutation 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 mutation 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 mutation can result in classic CF only if there is a 5T variant on the same chromosome and another CF mutation 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).

Data from:

American College of Medical Genetics. Technical standards and guidelines for CFTR mutation testing. 2006.
Committee on Genetics, American College of Obstetricians and Gynecologists. ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis. Obstet Gynecol 2005; 106;1465.
Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7:179.

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Basic and expanded screening panels for cystic fibrosis