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Mutation Specific Sequencing (Prenatal)

CPT:

81403

If both members of a couple are found to be carriers of the same disease-causing gene through Inheritest Carrier Screen, this fetal testing can be performed on amniotic fluid and CVS and will sequence only the region containing identified mutations that the parents carry.

Test Details

Use

This test is available for partner testing when a carrier is identified through universal carrier screening (Inheritest Carrier Screen NGS - Comprehensive Panel (142 genes) [451950] or Inheritest Carrier Screen NGS - Ashkenazi Jewish Panel (39 Genes)​ [451920] or Inheritest Carrier Screen NGS - Society Guided Panel (12 Genes)​ [451960] or Inheritest Gene-specific Sequencing, NGS [451910]).

Synonyms

Sequencing Follow-up; Sequencing, Prenatal;

Methodology

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

Specimen Requirements

Specimen

Amniotic fluid, direct and cultured cells, or chorionic villus (CVS) direct and cultured cells

Volume

15 mg CVS, one T-25 confluent flask of fetal cells or 10 mL amniotic fluid

Container

Amniotic fluid: Orange-top polypropylene tube CVS: Laboratory-provided screw-top tubes with sterile transport medium

Collection

Prenatal: Call a laboratory genetic coordinator prior to obtaining any specimens. All prenatal specimens (including cord blood) must be accompanied by a maternal blood specimen for analysis of possible maternal cell contamination.

Amniotic fluid: Discard first 2 mL, then collect 10 mL in 15-mL orange-top polypropylene tube. Additional specimen must be obtained for back-up culture at a LabCorp cytogenetics laboratory or another facility.

Storage Instructions

Maintain specimen at room temperature or refrigerate.

Additional Information

Limitations

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.

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