This example shows findings from an assessment of genomic variations in drug metabolizing genes with the purpose of determining how variations in those genes affect drug absorption, distribution, metabolism, and excretion (ADME). The method used to summarize nucleotide variation is represented in variable GFANMETH where appropriate. Identifying information for the genomic panel is represented in SPDEVID. Additional information about the genomic panel may be represented in the Medical Device Domains (e.g., DI domain) as needed.
gf.xpt
Rows 1-6, 9-14: Show variation at a particular allele for the single nucleotide variation identified in GFPVRID. An arbitrary identifier for the allele is represented in GFCOPYID. Rows 7, 15: Show the predicted phenotype based on the unique pattern of nucleotide variation of gene CYP2C19 that is involved in ADME. Rows 8, 16: Show the predicted diplotype based on the unique pattern of nucleotide variation of gene CYP2C19 that is involved in ADME.
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gf.xpt
Row STUDYID DOMAIN USUBJID SPDEVID GFSEQ GFREFID GFTESTCD GFTEST GFTSTDTL GFORRES GFSTRESC GFGENREF GFCHROM GFSYM GFSYMTYP GFGENLOC GFPVRID GFCOPYID GFNAM GFSPEC GFMETHOD GFANMETH VISITNUM VISIT VISITDY GFDTC GFDY 1 ABC123 GF 100001 DMET Plus 1 A566575 SNV Single Nucleotide Variation ALLELE SEQUENCE C C GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96521657 rs12248560 1 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-02 -2 2 ABC123 GF 100001 DMET Plus 2 A566575 SNV Single Nucleotide Variation ALLELE SEQUENCE C C GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96521657 rs12248560 2 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-02 -2 3 ABC123 GF 100001 DMET Plus 3 A566575 SNV Single Nucleotide Variation ALLELE SEQUENCE A A GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96541616 rs4244285 1 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-02 -2 4 ABC123 GF 100001 DMET Plus 4 A566575 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96541616 rs4244285 2 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-02 -2 5 ABC123 GF 100001 DMET Plus 5 A566575 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96540410 rs4986893 1 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-02 -2 6 ABC123 GF 100001 DMET Plus 6 A566575 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96540410 rs4986893 2 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-02 -2 7 ABC123 GF 100001 DMET Plus 7 A566575 VARPROF Variant Profile PREDICTED PHENOTYPE IM IM CYP2C19 GENE WITH PROTEIN PRODUCT ACME Genomics DNA MICROARRAY ADME VARIANT PROFILE -1 SCREENING -1 2022-04-02 -2 8 ABC123 GF 100001 DMET Plus 8 A566575 VARPROF Variant Profile PREDICTED DIPLOTYPE *1/*2 *1/*2 CYP2C19 GENE WITH PROTEIN PRODUCT ACME Genomics DNA MICROARRAY ADME VARIANT PROFILE -1 SCREENING -1 2022-04-02 -2 9 ABC123 GF 100002 DMET Plus 1 A899790 SNV Single Nucleotide Variation ALLELE SEQUENCE C C GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96521657 rs12248560 1 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-13 -1 10 ABC123 GF 100002 DMET Plus 2 A899790 SNV Single Nucleotide Variation ALLELE SEQUENCE C C GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96521657 rs12248560 2 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-13 -1 11 ABC123 GF 100002 DMET Plus 3 A899790 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96541616 rs4244285 1 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-13 -1 12 ABC123 GF 100002 DMET Plus 4 A899790 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96541616 rs4244285 2 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-13 -1 13 ABC123 GF 100002 DMET Plus 5 A899790 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96540410 rs4986893 1 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-13 -1 14 ABC123 GF 100002 DMET Plus 6 A899790 SNV Single Nucleotide Variation ALLELE SEQUENCE G G GRCh37 10 CYP2C19 GENE WITH PROTEIN PRODUCT 96540410 rs4986893 2 ACME Genomics DNA MICROARRAY -1 SCREENING -1 2022-04-13 -1 15 ABC123 GF 100002 DMET Plus 7 A899790 VARPROF Variant Profile PREDICTED PHENOTYPE EM EM CYP2C19 GENE WITH PROTEIN PRODUCT ACME Genomics DNA MICROARRAY ADME VARIANT PROFILE -1 SCREENING -1 2022-04-13 -1 16 ABC123 GF 100002 DMET Plus 8 A899790 VARPROF Variant Profile PREDICTED DIPLOTYPE *1/*1 *1/*1 CYP2C19 GENE WITH PROTEIN PRODUCT ACME Genomics DNA MICROARRAY ADME VARIANT PROFILE -1 SCREENING -1 2022-04-13 -1
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