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This example is currently in draft. Units need to be confirmed. Should we have a value for chromosome. GENSR is this applicable or needed for CEP-7? Should EGFR and symbol types populated in row 1? Add chromosome? |
This example shows findings from a cytogenetic assessment of EGFR gene copy number amplification with the purpose of determining the diagnostic status of patients with non-small cell lung cancer. In this example, the findings are generated using fluorescence in situ hybridization (FISH) methodology and semi-quantitative microscopic assessment by a pathologist. Microscopic assessments are then summarized to a diagnostic status using a specific algorithm represented in GFANMTH.
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| 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 1: | Shows the number of centromere probe signals in the nuclei of the counted cells. | | Row 2: | Shows the number of EGFR probe signals in the nuclei of the counted cells. |
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Units need to be confirmed. Should we have a value for chromosome. GENSR is this applicable or needed (e.g., for exon) | Rowcaps |
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| Row 1: | Shows | | Row 2: | | Row 3: |
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| | Row | STUDYID | DOMAIN | USUBJID | GFSEQ | GFREFID | GFTESTCD | GFTEST | GFTSTDTL | GFORRES | GFORRESU | GFSTRESC | GFSTRESN | GFSTRESU | GFCHROM | GFSYM | GFSYMTYP | GFGENSR | GFSTAT | GFREASND | GFNAM | GFSPEC | GFMETHOD | GFANMETH | VISITNUM | VISIT | VISITDY | GFDTC | GFDY | | 1 | ABC0023 | GF | AB23-001 | 1 | 45785-01 | CPNUMAMP | Copy Number Amplification |
COPY NUMBER RATIO | 1.1 | 1.1 | | CENTROMERE SIGNALS | 147 | PLACEHOLDER | 147 | 147 | PLACEHOLDER |
1.1 |
| EGFR | GENE WITH PROTEIN PRODUCT | CEP-7? |
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| ACME GENOMICS LABS | DNA | FISH |
| -1 | SCREENING | -2 | 6/21/2023 | -1 | | 2 | ABC0023 | GF | AB23-001 | 2 | 45785-01 | CPNUMAMP | Copy Number Amplification |
DETECTION | NEGATIVE | NEGATIVE| GENOME-SPECIFIC TARGET SIGNALS | 166 | PLACEHOLDER | 166 | 166 | PLACEHOLDER |
| EGFR | GENE WITH PROTEIN PRODUCT |
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| ACME GENOMICS LABS | DNA | FISH |
COLORADO SCORING METHOD FOR EGFR GENE AMPLIFICATION 2009 ALGORITHM |
| -1 | SCREENING | -2 | 6/21/2023 | -1 | | 3 | ABC0023 | GF | AB23-001 | 3 | 45785-01 | CPNUMAMP | Copy Number Amplification |
CENTROMERE SIGNALS | 147 | PLACEHOLDER | 147 | 147 | PLACEHOLDER | | COPY NUMBER RATIO | 1.1 |
| 1.1 | 1.1 |
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| EGFR | GENE WITH PROTEIN PRODUCT |
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| ACME GENOMICS LABS | DNA | FISH |
| -1 | SCREENING | -2 | 6/21/2023 | -1 | | 4 | ABC0023 | GF | AB23-001 | 4 | 45785-01 | CPNUMAMP | Copy Number Amplification |
GENOME-SPECIFIC TARGET SIGNALS | 166 | PLACEHOLDER | 166 | 166 | PLACEHOLDER | | DETECTION | NEGATIVE |
| NEGATIVE |
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| EGFR | GENE WITH PROTEIN PRODUCT |
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| ACME GENOMICS LABS | DNA | FISH | COLORADO SCORING METHOD FOR EGFR GENE AMPLIFICATION 2009 ALGORITHM | -1 | SCREENING | -2 | 6/21/2023 | -1 |
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