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GeneSeq® Cardio Single Gene Analysis

Test Number 485149
Test number copied
CPT Contact CPT coding department at 800-222-7566, ext. 6-8400.
Synonyms
  • Diagnostic testing
  • Full gene sequencing including deletion/duplication analysis
  • Gene specific sequencing

Test Details

Methodology

Next-generation sequencing: Identifies 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 GeneSeq® Cardio panel, except for APOB and MED12.

Note: Deletion/duplication analysis is not included for NF1.

Use

Single gene analysis is available for all genes included in any GeneSeq® Cardio panel. To order single gene analysis for Transthyretin amyloidosis (TTR), please order TTR Single Gene Analysis [482353].

Special Instructions

The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s) will result in testing delays.

To order single gene analysis for Transthyretin amyloidosis (TTR), please order TTR Single Gene Analysis [482353].

Test orders must include an attestation that the provider has the patient's informed 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

Rehder C, Bean LJH, Bick D, et al. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1399-1415.33927380
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
485149 Cardio Single Gene Analysis 19102-3 485158 Ethnicity 42784-9
485149 Cardio Single Gene Analysis 19102-3 485159 Specimen Type 31208-2
485149 Cardio Single Gene Analysis 19102-3 485192 Genetic Counselor 89993-0
485149 Cardio Single Gene Analysis 19102-3 485194 Indication 42349-1
485149 Cardio Single Gene Analysis 19102-3 485195 Result: 19102-3
485149 Cardio Single Gene Analysis 19102-3 485196 Interpretation 53039-4
485149 Cardio Single Gene Analysis 19102-3 485197 General Comments 8262-8
485149 Cardio Single Gene Analysis 19102-3 485198 Recommendations 62385-0
485149 Cardio Single Gene Analysis 19102-3 485200 Additional ClinicalInformation 55752-0
485149 Cardio Single Gene Analysis 19102-3 485202 Comments 8251-1
485149 Cardio Single Gene Analysis 19102-3 485203 Methods/Limitations 49549-9
485149 Cardio Single Gene Analysis 19102-3 485204 References 75608-0
485149 Cardio Single Gene Analysis 19102-3 485205 Director Review/Release 72486-4
485149 Cardio Single Gene Analysis 19102-3 485206 PDF 51969-4
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485158
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485159
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485192
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485194
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485195
Result Code NameResult:
UofM
Result LOINC19102-3
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485196
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485197
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485198
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485200
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485202
Result Code NameComments
UofM
Result LOINC8251-1
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485203
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485204
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485205
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code485149
Order Code NameCardio Single Gene Analysis
Order Loinc19102-3
Result Code485206
Result Code NamePDF
UofM
Result LOINC51969-4