Mutation Specific Sequencing (Prenatal)

This test is available for partner testing when a carrier is identified through universal carrier screening (Inheritest® Comprehensive, NGS [451950] or Inheritest® Ashkenazi Jewish Carrier Screening, NGS [451920] or Inheritest® Society-guided Screening, NGS [451960] or Inheritest® Gene-specific Sequencing, NGS [451910]).

Indicate the specific gene and mutation to be analyzed on the test request form. Failure to indicate the gene and mutation will result in testing delays.

This interpretation is based on the clinical information provided and the current understanding of the molecular genetics of the disease(s) tested. This analysis does not rule out the presence of disease-causing mutations in other regions of the gene(s) analyzed or in other genes, and it does not rule out the presence of large deletion or duplication mutations or complex rearrangements. False-positive or negative results may occur for reasons that include genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary.

DNA is isolated and specific gene regions amplified by the polymerase chain reaction (PCR). Targeted mutations are detected by direct DNA sequencing using capillary gel electrophoresis and fluorescence detection.