Step 1: From the "Result" section of GenomeDx report, please enter the chromosome number in the box labeled "Chromosome" above. Entries should be numbers 1-22, X, or Y only.
Step 2: In the "Position" box on the right, please enter the sequence coordinates found in parentheses in the "Result" section of the GenomeDx report.
Step 3: Click "Submit" to retrieve the relevant data from the UCSC genome database. Reference genes will be displayed along with chromosomal location, representation of CNV and segmental duplication loci.
Step 4: Genes with OMIM entries are listed below the result window. Click on any gene symbol to retrieve OMIM information.
Step 5: Click on any gene in the result window to obtain additional detail, including links to Entrez, PubMed, and GeneCards.
Searching for a gene of interest
Step 1: In the "Gene" box, please enter the gene symbol.
Step 2: Click "Submit" button to retrieve the relevant data from the UCSC genome database. The reference gene will be displayed along with chromosomal location, representation of CNV and segmental duplication loci.
Step 3: If this gene is listed in OMIM, the gene symbol will appear below the result window. Click on the gene symbol to retrieve OMIM information.
Step 4: Click on the gene symbol in the result window to obtain additional detail, including links to Entrez, PubMed, and GeneCards.
