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Interpretation of reflex test results after identification of a R117T variant

Interpretation of reflex test results after identification of a R117T variant
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 4.0

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