GeneSeq® Cardio Targeted Variant Analysis

TEST: 485208
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CPT: Contact CPT coding department at 800-222-7566, ext. 6-8400.
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Synonyms

Mutation specific sequencing, MutSeq, family testing

Test Includes

This test includes all genes included in any GeneSeq® Cardio panel.

Special Instructions

The specific gene and variant(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene and variant will result in testing delays. Please include a copy of the previously tested family member's laboratory report for documentation. Please call 800-255-7357 to speak with a laboratory genetic coordinator before submitting specimens for Targeted Variant Analysis. If previous testing was performed at an outside laboratory, submitting a positive control sample is highly recommended.

Expected Turnaround Time

14 - 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.

Specimen Requirements

Specimen

Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit

Volume

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Minimum Volume

3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA)tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Collection

Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

Stability Requirements

Whole blood: 14 days at room temperature or 30 days at 4°C

Buccal: 60 days at room temperature

Saliva: 60 days at room temperature

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

Test Details

Use

This test is used to test for a known variant documented in the family and is available only for genes included in GeneSeq® Cardio panels.

Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions, variants in regions, genes not included in this test, possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change with time if more information becomes available. False positive or false negative results may occur for reasons that include rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. 

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Next-generation sequencing to identify known familial genetic variants, including small nucleotide (SNVs), insertions, deletions and copy number variants (CNVs)

References

Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424. PubMed 25741868

For Providers

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