Mutation-specific Sequencing, Whole Blood

CPT: 81403
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Test Details

Synonyms

  • Sequencing, Follow-up

Use

This test is available for family testing when a mutation has been specifically identified through universal carrier screening (Inheritest® Gene-specific Sequencing, NGS [451910]; Inheritest® Ashkenazi Jewish Carrier Screening Panel, NGS [451920]; Inheritest® Comprehensive Panel, NGS [451950]; or Inheritest® Society-guided Screening Panel, NGS [451960]); or VistaSeq℠ Hereditary Cancer Panel [481220] or VistaSeq℠ Hereditary Cancer Panel Without BRCA [481240]); or through GeneSeq: Cardio testing. (See links to tests in Related Information).

Limitations

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 results or false-negative results may occur for reasons that include: Genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples or erroneous representation of family relationships.

This test was developed, and its performance characteristics determined, by Esoterix Genetic Laboratories LLC. It has not been cleared or approved by the US Food and Drug Administration (FDA).

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.

Specimen Requirements

Specimen

Whole blood, saliva

Volume

Whole blood: 10 mL whole blood or 30 mL if ordering multiple tests. Saliva: One 2-mL tube from the Oragene® DNA OG-500 saliva kit

Container

Whole blood: Yellow-top (ACD-A) tube or lavender-top (EDTA) tube. Saliva: One 2-mL tube from the Oragene® DNA OG-500 saliva kit

Collection

Saliva: Do not eat, drink, smoke, or chew gum for at least 30 minutes prior to collection. See Oragene® DNA OG-500 saliva kit for detailed instructions.

Storage Instructions

Maintain specimen at room temperature.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451382 Mutation Sequence Analysis,1st 230163 Specimen Status N/A
451382 Mutation Sequence Analysis,1st 450003 Specimen Type: 31208-2
451382 Mutation Sequence Analysis,1st 450006 Ethnicity: 42784-9
451382 Mutation Sequence Analysis,1st 451611 Indication: 42349-1
451382 Mutation Sequence Analysis,1st 451337 Result: 53039-4
451382 Mutation Sequence Analysis,1st 451339 Comments: 22638-1
451382 Mutation Sequence Analysis,1st 451338 Method/Limitations: 49549-9
451382 Mutation Sequence Analysis,1st 451342 Disclaimer: N/A
451382 Mutation Sequence Analysis,1st 451336 Director Review: 48672-0
451382 Mutation Sequence Analysis,1st 451743 PDF 51969-4

For Providers

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CPT Statement/Profile Statement

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