Quantitative Sweat Chloride Testing Remains the Standard for Diagnostic Testing

question 24

Multiple Choice

Quantitative sweat chloride testing remains the standard for diagnostic testing of cystic fibrosis (CF) because:

• A) a total gene deletion of the cystic fibrosis (CF)gene cannot be detected by direct mutational analysis.
• B) there are many mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR)protein and direct mutational analysis is not always informative.
• C) a gene deletion on the X chromosome results in loss of an intracellular receptor protein,which can only be detected by protein analysis.
• D) an amino acid deletion in the CFTR gene resulting in the loss of electrolyte transport across cell membranes can only be detected by sweat testing.

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