In order to ensure 2023 billing, testing must be activated before the end of the year, or within 30 days of proband sample collection (if sample was collected in 2023). For Exome, Genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2023 billing, please contact us at to determine how to proceed.

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Genomic Evaluation for Mitochondrial Disease in 1,935 Infants

This study focuses on mitochondrial disease phenotypes and genotypes in infants who have undergone rapid DNA sequencing. As more NICUs are utilizing this technology, it remains an open question if one should also include rapid mitochondrial DNA (mt-DNA) testing. This study evaluates the incidence of mitochondrial disease caused by both n-DNA and mt-DNA in NICU patients.