Answer Happy

Case 1: Cystic Fibrosis
VW is a 3-year-old female who was diagnosed with cystic fibrosis
after presenting with salty-tasting skin, chronic lung
infections/respiratory problems and an overall failure to thrive.
Gene sequencing of the CFTR gene confirmed the cystic fibrosis
diagnosis. VW’s parent (neither of which have overt cystic
fibrosis) are very worried based on the little information they
know about the disease and VW’s overall quality of life. They are
currently expecting another child, and would like to have a large
family, but are worried about potentially having more children with
the condition.
The pulmonologist asks you to determine if ivacaftor would be
appropriate for VW, as well provide the family education about
their daughter’s diagnosis, and how it may affect their family.
What are the gene(s) relevant to this case?
What is your recommendation and why?
*This is all that is given
REPORT DATE: 3/2/2022 FOR ACADEMIC PURPOSES ONLY - NOT FOR CLINICAL USE Test Details Gene Alleles Tested CYP2C19 Genotype *1/*1 *2/2 Phenotype Normal Metabolizer Normal Metabolizer CYP2D6 CYP3A5 +3/3 CYP3A4 *1/1B *2, *3,*4,*4B, *5, *6,*7, *8,*9,*17 *2, 43, *4,*4M, *6,*7*8, 9, 10,*12, *14A,*14B, * 17, *29,35,*41 *1D, 2, 3, 3B,*3C, +6,7,8,9 *1B,*2, 13, *12, *17,*22 - 1639G>A *2,3,4,5,6,11 *6,*9 521T>C388A>G VKORC1 - 1639G> AG/G *1/1 Poor Metabolizer Normal Metabolizer Low Warfarin Sensitivity Normal Metabolizer Normal Metabolizer Normal Function Mutant CYP2C9 CYP2B6 SLCO101 *1/1 521T>CT/T Gly542X / Phe508del *1/1 CFTR Numerous DPYD Normal Metabolizer Numerous TP MT Poor Metabolizer *2, 3A, 3B, *3C4 Normal GOPD HLA-B*15:02 Numerous All HLA B*15 *2/3 B/B negative/negative negative/positive negative negative negative negative positive/ negative HLA-B*57:01 HLA-B*58:01 All HLAB*57 Negative Positive Negative Negative Positive All HLAB 58 HLA-A31:01 All HLAA*31 HLA-A*32:01 All HLAA*32