PMID: 16865559

Tluczek A, Koscik RL, Modaff P, Pfeil D, Rock MJ, Farrell PM, Lifchez C, Freeman ME, Gershan W, Zaleski C, Sullivan B
Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test.
J Genet Couns. 2006 Aug;15(4):277-91., [PubMed]
Sentences
No. Mutations Sentence Comment
62 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16865559:62:194
status: NEW
view ABCC7 p.Arg117His details
 Abnormal CF screen results, for which sweat testing would be recommended, are categorized into 3 types: (a) the presence of two CF gene mutations indicates a CF diagnosis (with the exception of R117H-7T compound heterozygotes); (b) the presence of one CF gene mutation indicates that the infant is at least a carrier and possibly has CF; and (c) an extremely high IRT level without mutations plus the presence of a family history of CF and/or symptoms of CF indicates possible CF diagnosis. Login to comment