Mutation-specific Sequencing, Prenatal

CPT: 81403
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Synonyms

  • Sequencing Follow-up
  • Sequencing, Prenatal

Special Instructions

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.


Expected Turnaround Time

14 - 28 days




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.


Test Details



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.


Methodology

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.


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451385 Mutation Specific Seq, Prenat. 450003 Specimen Type: 31208-2
451385 Mutation Specific Seq, Prenat. 450006 Ethnicity: 42784-9
451385 Mutation Specific Seq, Prenat. 451611 Indication: 42349-1
451385 Mutation Specific Seq, Prenat. 451337 Result: 53039-4
451385 Mutation Specific Seq, Prenat. 451339 Comments: 22638-1
451385 Mutation Specific Seq, Prenat. 451338 Method/Limitations: 49549-9
451385 Mutation Specific Seq, Prenat. 451342 Disclaimer: N/A
451385 Mutation Specific Seq, Prenat. 451336 Director Review: 48672-0
451385 Mutation Specific Seq, Prenat. 451743 PDF 51969-4

For Providers

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