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This example shows findings from an assessment of a the unique pattern of genomic variations allelic variation in genes of human leukocyte antigens (HLA) with the purpose of determining genotyping of
An assessment of the unique pattern of sequence variation of one to many loci associated with a normal or abnormal biological process. | A characterization or classification of the allele. |
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.
Genotyping of the human leucocyte antigen (HLA) is indispensable for transplantation of hematopoietic stem cells or organs [1–3] and for the management of other diseases involving immune reactions [4].
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.
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, 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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An assessment of the unique pattern of sequence variation of one to many loci associated with a normal or abnormal biological process.
Human leukocyte antigen (HLA) typing
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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Rows 1-9, 11, 15-16: | Show the characterization of the unique pattern of sequence variation |
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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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Rows 1-6, 9-14: | Dataset2 |
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| SPDEVID | NHOID | GFGRPIDGFSPID | GFLNKID | GFLNKGRP | GFTESTCD | GFTEST | GFTSTDTL | GFORRES | GFSYM | GFSYMTYP | GFCOPYID | GFSTAT | GFREASND | GFXFNGFRUNID | GFANMETH | GFBLFL | GFDRVFL | GFLLOQ | GFREPNUM | VISITNUM | VISIT | VISITDY | GFDTC | GFDY |
GFTPT | GFTPTNUM | GFELTM | GFTPTREF | GFRFTDTC | 1 | Study-123 | GF | S123-001 | 1 | HGA4567 | 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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