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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).
Unique pattern of nucleotide variation of genes that are involved in drug absorption, distribution, metabolism, and excretion (ADME).
This example shows findings from an assessment of the number of mutations within a tumor genome with the purpose of determining likely response to a therapeutic agent and/or disease burden. In this example, findings are generated by two vendors using different methodologies and specimen types.
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.
Add Tags in Examples Collection for CYP450, UGT1A1
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| 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. | | Row ... |
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| Row | STUDYID | DOMAIN | USUBJID | SPDEVID | GFSEQ | GFREFID | GFTESTCD | GFTEST | GFTSTDTL | GFORRES | GFSTRESN | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 2022-04-02 | -2 | | 7 | ABC123 | GF | 100001 | DMET Plus | 7 | A566575 | VARPROF | Variant Profile | PREDICTED PHENOTYPE | IM | IM |
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| CYP2C19 | GENE WITH PROTEIN PRODUCT |
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| ACME Genomics | DNA | MICROARRAY | ADME VARIANT PROFILE | -1 | SCREENING | -1to be added | 2022-04-02 | -2 | | 8 | ABC123 | GF | 100001 | DMET Plus | 8 | A566575 | VARPROF | Variant Profile | PREDICTED DIPLOTYPE | *1/*2 | *1/*2 |
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| CYP2C19 | GENE WITH PROTEIN PRODUCT |
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| ACME Genomics | DNA | MICROARRAY | ADME VARIANT PROFILE | -1 | SCREENING | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 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 | -1to be added | 2022-04-13 | -1 | | 15 | ABC123 | GF | 100002 | DMET Plus | 7 | A899790 | VARPROF | Variant Profile | PREDICTED PHENOTYPE | EM | EM |
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| CYP2C19 | GENE WITH PROTEIN PRODUCT |
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| ACME Genomics | DNA | MICROARRAY | ADME VARIANT PROFILE | -1 | SCREENING | -1to be added | 2022-04-13 | -1 | | 16 | ABC123 | GF | 100002 | DMET Plus | 8 | A899790 | VARPROF | Variant Profile | PREDICTED DIPLOTYPE | *1/*1 | *1/*1 |
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| CYP2C19 | GENE WITH PROTEIN PRODUCT |
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| ACME Genomics | DNA | MICROARRAY | ADME VARIANT PROFILE | -1 | SCREENING | -1to be added | 2022-04-13 | -1 |
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