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Targeted Variant Analysis

Test Number 482552
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CPT

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

Test Details

Methodology

Next Generation Sequencing: Identifies known, familial genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

Result Turnaround Time

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

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.

Test Includes

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

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.

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.

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 Instructions

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.

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

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

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
482552 Targeted Variant Analysis 50397-9 482501 Ethnicity 42784-9
482552 Targeted Variant Analysis 50397-9 482502 Specimen Type 31208-2
482552 Targeted Variant Analysis 50397-9 482503 Genetic Counselor 89993-0
482552 Targeted Variant Analysis 50397-9 482504 Indication 42349-1
482552 Targeted Variant Analysis 50397-9 482505 Result: 50397-9
482552 Targeted Variant Analysis 50397-9 482506 Interpretation 53039-4
482552 Targeted Variant Analysis 50397-9 482507 General Comments 8262-8
482552 Targeted Variant Analysis 50397-9 482508 Recommendations 62385-0
482552 Targeted Variant Analysis 50397-9 482509 Additional ClinicalInformation 55752-0
482552 Targeted Variant Analysis 50397-9 482510 Comments 8251-1
482552 Targeted Variant Analysis 50397-9 482511 Methods/Limitations 49549-9
482552 Targeted Variant Analysis 50397-9 482512 References 75608-0
482552 Targeted Variant Analysis 50397-9 482513 Director Review/Release 72486-4
482552 Targeted Variant Analysis 50397-9 482514 PDF 51969-4
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482501
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482502
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482503
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482504
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482505
Result Code NameResult:
UofM
Result LOINC50397-9
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482506
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482507
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482508
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482509
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482510
Result Code NameComments
UofM
Result LOINC8251-1
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482511
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482512
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482513
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code482552
Order Code NameTargeted Variant Analysis
Order Loinc50397-9
Result Code482514
Result Code NamePDF
UofM
Result LOINC51969-4