Interpretation of reflex test results after identification of a R117T mutation

R117H + 5T on one chromosome plus F508del-CFTR on the other chromosome	Classic cystic fibrosis
Other combinations and male fetus	CBAVD only
R117H + F508del-CFTR on opposite chromosomes	CBAVD
R117H + 5T on opposite chromosomes	CBAVD
R117H + 7T on opposite chromosomes	CBAVD
5T/5T homozygosity (5T on each chromosome)	CBAVD

CBAVD: congenital bilateral absence of the vas deferens.

Graphic 81257 Version 3.0

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