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GeneDx, XomeDx
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
561
Alias/See Also
Whole Exome Sequencing
CPT Codes
81479x1
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
Instructions
Ship overnight at ambient temperature, using a cool pack in hot weather. Specimens may be refrigerated for 7 days prior to shipping.
Transport Temperature
ambient
Methodology
Next-gen Sequencing
Report Available
20-24 weeks
Clinical Significance
"XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual. The XomeDx test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously. The XomeDx test targets the protein-coding regions of the human genome, which represents ~20,000 genes and accounts for approximately ~2% of all human genetic material (Bamshad et al., 2011). These targeted regions of an individual’s genes, called exons, are captured and sequenced using massively parallel sequencing. An individual’s sequence is then compared to published reference sequences, other individuals from the affected individual’s family and control individuals to identify causal variants that could explain the
disorder in the affected patient. The XomeDx test is most efficient when other family members are included in the analysis of the affected individual’s exome sequence. Depending on the family structure and the availability of other affected individuals within a family, both parents and/or other family members of the affected individual may be evaluated simultaneously in order to maximize the chance of identifying the cause of the disorder in the family. The XomeDx test is best suited for patients who have a familial condition that routine genetic testing has not been able to elucidate."
disorder in the affected patient. The XomeDx test is most efficient when other family members are included in the analysis of the affected individual’s exome sequence. Depending on the family structure and the availability of other affected individuals within a family, both parents and/or other family members of the affected individual may be evaluated simultaneously in order to maximize the chance of identifying the cause of the disorder in the family. The XomeDx test is best suited for patients who have a familial condition that routine genetic testing has not been able to elucidate."
