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Mutation-specific Sequencing, Whole Blood
- Sequencing, Follow-up
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
13 - 21 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
- GeneSeq®: Cardio-Early-onset Coronary Artery Disease/Familial Hypercholesterolemia Profile
- GeneSeq®: Cardio-Familial Aortopathy Profile
- GeneSeq®: Cardio-Familial Arrhythmia Profile
- GeneSeq®: Cardio-Familial Cardiomyopathy Profile
- GeneSeq®: Cardio-Familial Congenital Heart Disease Profile
- GeneSeq®: Cardio-Noonan Syndrome/RASopathies Profile
- Inheritest® Carrier Screen, Ashkenazi Jewish Panel (48 Genes)
- Inheritest® Carrier Screen, Comprehensive Panel (144 Genes)
- Inheritest® Carrier Screen, Society-guided Panel (14 Genes)
- Inheritest® Gene-specific Sequencing, NGS
- VistaSeq® Hereditary Cancer Panel
- VistaSeq® Hereditary Cancer Panel Without BRCA
For more information, please view the literature below.
Whole blood: 10 mL whole blood or 20 mL if ordering multiple tests
Whole blood: Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Maintain specimen at room temperature.
This test is available for family testing when a mutation has been specifically identified through universal carrier screening (Inheritest® Gene-specific Sequencing, NGS ; Inheritest® Ashkenazi Jewish Carrier Screening Panel, NGS ; Inheritest® Comprehensive Panel, NGS ; or Inheritest® Society-guided Screening Panel, NGS ); or VistaSeq® Hereditary Cancer Panel  or VistaSeq® Hereditary Cancer Panel Without BRCA ); or through GeneSeq: Cardio testing. (See links to tests in Related Information).
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).
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.
|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||51969-4|