This example shows findings from an assessment of the HTT gene sequence with the purpose of determining the number of CAG repeats in subjects with Huntington's Disease. In this example, findings generated from the assessment of variable number tandem repeats are generated using two methodologies, one of which provides a more accurate and direct counting of CAG repeat numbers. The arbitrary allele identifier is shown in GFCOPYID. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC. The unique identifier for the sequence used as the reference to identify the genetic variation in the result is shown in GFSEQID. The test method by which the examination was performed is shown in GFMETHOD.
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| Row 1: | Shows the predicted number of CAG repeats for one allele of the HTT gene in the subject. | | Row 2: | Shows the predicted number of CAG repeats for the other allele of the HTT gene in the subject. | | Row 3: | Shows the number of CAG repeats one allele of the HTT gene in the subject. | | Row 4: | Shows the number of CAG repeats for the other allele of the HTT gene in the subject. | | Row 5: | Shows the nucleotide sequence for one allele of the HTT gene in the subject. | | Row 6: | Shows the nucleotide sequence for the other allele of the HTT gene in the subject. |
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| Row | STUDYID | DOMAIN | USUBJID | GFSEQ | GFREFID | GFTESTCD | GFTEST | GFTSTDTL | GFORRES | GFSTRESC | GFSTRESN | GFSYM | GFSYMTYP | GFGENLOC | GFSEQID | GFCOPYID | GFSPEC | GFMETHOD | VISITNUM | GFDTC | | 1 | ABC123 | GF | HD01-101 | 1 | 789879 | VNTR | Variable Number Tandem Repeats | PREDICTED NUMBER OF CAG REPEATS | 43 | 43 | 43 | HTT | GENE WITH PROTEIN PRODUCT | c.52_54 | LRG_763t1 | 1 | gDNA | CAPILLARY ELECTROPHORESIS | 1 | 2017-05-22 | | 2 | ABC123 | GF | HD01-101 | 2 | 789879 | VNTR | Variable Number Tandem Repeats | PREDICTED NUMBER OF CAG REPEATS | 25 | 25 | 25 | HTT | GENE WITH PROTEIN PRODUCT | c.52_54 | LRG_763t1 | 2 | gDNA | CAPILLARY ELECTROPHORESIS | 1 | 2017-05-22 | | 3 | ABC123 | GF | HD01-101 | 3 | 679898 | VNTR | Variable Number Tandem Repeats | NUMBER OF CAG REPEATS | 44 | 44 | 44 | HTT | GENE WITH PROTEIN PRODUCT | c.52_54 | LRG_763t1 | 1 | gDNA | SEQUENCING | 1 | 2017-05-22 | | 4 | ABC123 | GF | HD01-101 | 4 | 679898 | VNTR | Variable Number Tandem Repeats | NUMBER OF CAG REPEATS | 23 | 23 | 23 | HTT | GENE WITH PROTEIN PRODUCT | c.52_54 | LRG_763t1 | 2 | gDNA | SEQUENCING | 1 | 2017-05-22 | | 5 | ABC123 | GF | HD01-101 | 5 | 679898 | VNTR | Variable Number Tandem Repeats | NUCLEOTIDE SEQUENCE | CAG[44]CAACAG[2]CCGCCA[1]CCG[7]CCT[2] | CAG[44]CAACAG[2]CCGCCA[1]CCG[7]CCT[2] |
| HTT | GENE WITH PROTEIN PRODUCT | c.52_153 | LRG_763t1 | 1 | gDNA | SEQUENCING | 1 | 2017-05-22 | | 6 | ABC123 | GF | HD01-101 | 6 | 679898 | VNTR | Variable Number Tandem Repeats | NUCLEOTIDE SEQUENCE | CAG[23]CAACAG[2]CCGCCA[1]CCG[7]CCT[2] | CAG[23]CAACAG[2]CCGCCA[1]CCG[7]CCT[2] |
| HTT | GENE WITH PROTEIN PRODUCT | c.52_153 | LRG_763t1 | 2 | gDNA | SEQUENCING | 1 | 2017-05-22 |
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