Since 2014, GeneDx has been detecting copy number variants (CNVs) directly from exome sequencing data. Our methods can reliably detect most deletions and duplications involving three or more coding exons; smaller deletions or duplications may not be reliably identified. All reported CNVs are confirmed by an orthogonal method such as array CGH, MLPA, or PCR. … Does exome sequencing detect copy number variants (i.e. deletions, duplications)?

Approximately 98% of the targeted region of an affected individual’s exome will be assessed with the XomeDx® tests at a minimum of 10x coverage, the minimum read depth necessary to detect a variant. Across the exome, the average depth of coverage is 100-120x. The test report will include case-specific exome coverage. For more information, please … What are the statistics for coverage/quality for GeneDx exome tests?

It is possible that entire genes may not be captured and sequenced in a particular patient, though in general we expect that there are only small portions of different genes not amenable to evaluation. Some exons have low or no coverage because probes have not been designed or are unavailable for these regions. It may … Are there genes that are not well covered by exome or genome testing?

Given the large number of genes analyzed via exome or genome sequencing, pathogenic variants may be detected in genes that may be medically significant, but not associated with the primary reason for testing in a given patient. In rare cases, GeneDx may report an incidental finding in a gene that is not one of the … Will analysis via exome or genome sequencing identify variants in disease-associated genes that are not associated with the patient’s reported phenotype?

A single XomeDx® or GenomeSeqDx report will be issued on the patient. A separate report will not be issued for family members who submitted a specimen for trio/duo testing. If additional reports are requested for other affected family members, additional fees may apply. The report issued for the patient will contain variants in genes previously … What will the test report include for GeneDx exome or genome testing?

Biological parents are typically the most informative specimens and are preferred whenever possible. If parents are unavailable, other relatives may be considered on a case-by-case basis. To review details of a specific case, you can contact a GeneDx Clinical Genomics Genetic Counselor at support@genedx.com or 1-888-729-1206.

All individuals’ specimens should be submitted at the beginning of testing. Relative specimens may be collected and shipped separately from the patient specimen; however, relative specimens must be received within three weeks of receipt of the patient’s specimen. In general, only a single report will be issued for in the patient’s name only. However, the … Whose specimens should be sent for GeneDx exome or genome sequencing, and what testing is performed?

Questions regarding pricing and billing can be directed to GeneDx Customer Service at support@genedx.com or by calling 1-888-729-1206.