This example shows findings from an assessment of genomic variations in genes associated with HLA typing with the purpose of determining the allele subtypes.
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This example is currently in draft. |
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.the unique pattern of allelic variation in genes of human leukocyte antigens (HLA), for purposes such as selecting cell, tissue and organ donors, diagnosing autoimmune diseases, determining the risk of adverse drug reactions, or to guide immunotherapies. An arbitrary identifier for the allele is represented in GFCOPYID. Patterns of HLA allele sequences are reported as short codes from a publicly available reference database.
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6 914:16: | Show the characterization of the unique pattern of sequence variation for the allele of the HLA gene of interest represented in GFSYM. | Rows 10, 12-14: | Show attempted assessments for which results could not be generated due to sequence overlap with the detected DRB1 allele. |
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| Study Identifier | Domain Abbreviation | Unique Subject Identifier | Sponsor Device Identifier | Non-Host Organism Identifier | Sequence Number | Group ID | Reference ID | Sponsor-Defined Identifier | Link ID | Link Group ID | Short Name of Genomic Measurement | Name of Genomic Measurement | Measurement, Test, or Examination Detail | Result or Finding in Original Units | Genomic Symbol | Genomic Symbol Type | Copy Identifier | Completion Status | Reason Test Not Done | External File Path | Laboratory/Vendor Name | Specimen Material Type | Method of Test or Examination | Run ID | Analysis Method | Baseline Flag | Derived Flag | Lower Limit of Quantitation | Repetition Number | Visit Number | Visit Name | Planned Study Day of Visit | Date/Time of Specimen Collection | Study Day of Specimen Collection | Planned Time Point Name | Planned Time Point Number | Planned Elapsed Time from Time Point Ref | Time Point Reference | Date/Time of Reference Time PointSPDEVID | NHOIDGFGRPIDGFSPID | GFLNKIDGFLNKGRP | GFTESTCD | GFTEST | GFTSTDTL | GFORRES | GFSYM | GFSYMTYP | GFCOPYID | GFSTAT | GFREASND | GFXFNGFRUNID | GFANMETH | GFBLFL | GFDRVFLGFLLOQ | GFREPNUM | VISITNUM | VISIT | VISITDY | GFDTC | GFDY |
GFTPT | GFTPTNUM | GFELTM | GFTPTREF | GFRFTDTC | 1 | Study-123 | GF | S123-001 | 1 | HGA4567 | An assessment of the unique pattern of sequence variation of one to many loci associated with a normal or abnormal biological process. | VARPROF | Variant Profile | ALLELE TYPE | A*02:TSXZ | HLA-A | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 9/16/20232023-09-16 | -2 | 2 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | A*03:ABSAX | HLA-A | GENE WITH PROTEIN PRODUCT | 2 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 3 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | B*18:TXYF | HLA-B | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 4 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | B*38:01 | HLA-B | GENE WITH PROTEIN PRODUCT | 2 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 5 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | C*07:AAEPN | HLA-C | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 6 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | C*12:AAGWE | HLA-C | GENE WITH PROTEIN PRODUCT | 2 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 6 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DRB1*07:ACEUA | HLA-DRB1 | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 7 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DRB1*14:ABZZV | HLA-DRB1 | GENE WITH PROTEIN PRODUCT | 2 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 9 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DRB3*01:XX | HLA-DRB3 | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 10 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DRB3* |
| HLA-DRB3 | GENE WITH PROTEIN PRODUCT | 2 | NOT DONE | DRB3* | ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 11 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DRB4*01:FVUU | HLA-DRB4 | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 12 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE |
| HLA-DRB4 | GENE WITH PROTEIN PRODUCT | 2 | NOT DONE | DRB4* | ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 13 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE |
| HLA-DRB5 | GENE WITH PROTEIN PRODUCT | 1 | NOT DONE | DRB5* | ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 14 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE |
| HLA-DRB5 | GENE WITH PROTEIN PRODUCT | 2 | NOT DONE | DRB5* | ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 15 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DQB1*02:ACBXN | HLA-DQB1 | GENE WITH PROTEIN PRODUCT | 1 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 | 16 | Study-123 | GF | S123-001 | 1 | HGA4567 | VARPROF | Variant Profile | ALLELE TYPE | DQB1*05:ACEDB | HLA-DQB1 | GENE WITH PROTEIN PRODUCT | 2 |
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| ACME Genomics | DNA | SANGER SEQUENCING | -1 | SCREENING | -1 | 2023-09-16 | -2 |
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