To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at support@genedx.com to determine how to proceed.

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How does GeneDx identify variants associated with the patient’s phenotype when they get a genomic test?

Exome and genome sequencing will identify hundreds of thousands of variants. Variants are filtered using a variety of factors including population frequency, presence of gene and/or variant in HGMD or other databases, inheritance pattern, phenotype, severity of sequence change, and function in pathways. The clinical information provided by the ordering provider, including a description of the features, family history, and prior test results, is critical in the analysis of variants.