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Targeted Variant Analysis

CPT Call client services.
Synonyms
  • Family testing
  • Known variant analysis
  • Mutation specific sequencing
  • MUTSEQ

Test Details

Turnaround Time

14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)

Use

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

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.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing.

Test Includes

This test includes all genes included in any Inheritest® panel except CYP21A2, FMR1, HBA1/HBA2 and SMN1.

Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over 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: Identifies known, familial genetic variants, including small nucleotide variants (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):405-424.25741868

Specimen Requirements

Information on collection, storage, and volume

Specimen

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

Volume

4 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

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

Storage Instructions

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

Causes for Rejection

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

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.