Mutation-specific Sequencing (blood; mouthwash)

CPT 81403
Synonyms Sequencing, Follow-up

Test Details

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.

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).

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.

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 polymerse chain reaction (PCR). Targeted mutations are detected by direct DNA sequencing using capillary gel electrophoresis and fluorescence detection.

Related Documents

For more information, please view the literature below.

Familial Hypercholesterolemia LABupdate

Noonan Syndrome and Related Conditions LABupdate

Familial Cardiomyopathy LABupdate

CHARGE Syndrome Testing LABupdate

Atrial Septal Defects Testing LABupdate

Familial Aortopathy LABupdate

GeneSeq®: Cardio

Familial Arrhythmia LABupdate

Specimen Requirements

Information on collection, storage, and volume

Specimen

Whole blood; mouthwash

Volume

Blood: 10 mL whole blood or 20 mL if ordering multiple tests

Container

Blood: Yellow-top (ACD-A) tube or lavender-top (EDTA) tube

Storage Instructions

Maintain specimen at room temperature

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen