Whole Exome Sequencing – Proband Only, Products of Conception (POC)

The scientific knowledge of the genome is incomplete and the technical ability to capture quality sequence data varies across the genome. A negative result does not exclude a genetic basis for the patient's condition. This assay is able to detect some mitochondrial DNA (mtDNA) variants. However, certain mtDNA variants, such as low level heteroplasmic variants, pathogenic mtDNA variants known to be undetectable in blood, large mtDNA deletions, and mtDNA depletion, are not detectable by this assay. If WES test results are negative and an mtDNA-related disease is suspected, mtDNA testing using a mitochondrial specific testing platform should be considered. This test is not intended to detect mosaicism, copy number variations, trinucleotide repeat expansions or epigenetic effects. It may not detect large chromosomal rearrangements, variants in regions with highly repetitive elements, regions with very high similarity to other regions, regions with insufficient coverage, or regions outside targeted regions, such as non-coding or regulatory regions. Sensitivity for detection of insertions and deletions may be lower than for base substitutions. While whole exome may confirm a diagnosis, findings may not impact patient management, including therapeutic options, or improve patient outcomes.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.