ABCMdb

PMID: 12799389

Vastag B
Cystic fibrosis gene testing a challenge: experts say widespread use is creating unnecessary risks.
JAMA. 2003 Jun 11;289(22):2923-4., 2003-06-11 [PubMed]

Sentences

No. Mutations Sentence Comment

37 ABCC7 p.Arg117His However, one of the mutations, called R117H, presents a risk for cystic fibrosis only if carried in conjunction with another genetic variant, called 5T. Login to comment 38 ABCC7 p.Arg117His Parents should be tested for 5T only if positive for R117H. Login to comment 39 ABCC7 p.Arg117His And even after testing positive for both, a parent can be con- sideredacarrieronlywhenathirdround of testing shows that the R117H and 5T variations lie on the same allele. Login to comment 41 ABCC7 p.Arg117His Therefore, to ensure that tests for cystic fibrosis-related mutations "focus on CF and not create unnecessary anxiety concerning the fertility of the fetus," ACOG and ACMG guidelines recommend that a so-called reflex test for the 5T genetic variant be considered only when a first round of testing has revealed the presence of the R117H mutation. Login to comment 42 ABCC7 p.Arg117His In the cases outlined by Quest, the laboratory reported a positive 5T test in instances where the parents were negative for R117H and thus should not have been tested for 5T at all. Login to comment