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GeneSeq® PLUS

Test Number 482370
Test number copied
CPT

Contact CPT coding department at 800-222-7566, ext. 6-8400.
Synonyms
  • Full gene sequencing, partner testing
  • 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.)

Related Documents

For more information, please view the literature below.

Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS

Consent for genetic testing

GenSeq®: Cardio brochure

Use

Single gene analysis is available for all genes included in any Inheritest® panel except for SMN1 and FMR1. To order single gene analysis, use Spinal Muscular Atrophy (SMA) [481630] and Fragile X Syndrome, Carrier [481684].

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.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Specimen Requirements

Test Includes

This test includes all genes included in any Inheritest® panel except SMN1 and FMR1.

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.

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

Specimen

Whole blood or Oragene Dx 500 saliva kit

Volume

8.5 mL whole blood or Oragene Dx saliva kit

Minimum Volume

3 mL whole blood or Oragene Dx saliva kit

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube 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 Instructions

Standard phlebotomy; follow 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

Saliva: 60 days at room temperature

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
482370 GeneSeq PLUS 19102-3 482354 Test Detail 19102-3
482370 GeneSeq PLUS 19102-3 482355 Ethnicity 42784-9
482370 GeneSeq PLUS 19102-3 482356 Specimen Type 31208-2
482370 GeneSeq PLUS 19102-3 482357 Genetic Counselor 89993-0
482370 GeneSeq PLUS 19102-3 482358 Indication 42349-1
482370 GeneSeq PLUS 19102-3 482359 Result: 50397-9
482370 GeneSeq PLUS 19102-3 482360 Interpretation 53039-4
482370 GeneSeq PLUS 19102-3 482361 General Comments 8262-8
482370 GeneSeq PLUS 19102-3 482362 Recommendations 62385-0
482370 GeneSeq PLUS 19102-3 482363 Additional ClinicalInformation 55752-0
482370 GeneSeq PLUS 19102-3 482364 Comments 8251-1
482370 GeneSeq PLUS 19102-3 482365 Methods/Limitations 49549-9
482370 GeneSeq PLUS 19102-3 482366 References 75608-0
482370 GeneSeq PLUS 19102-3 482367 Director Review/Release 72486-4
482370 GeneSeq PLUS 19102-3 482368 PDF 51969-4
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482354
Result Code NameTest Detail
UofM
Result LOINC19102-3
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482355
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482356
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482357
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482358
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482359
Result Code NameResult:
UofM
Result LOINC50397-9
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482360
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482361
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482362
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482363
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482364
Result Code NameComments
UofM
Result LOINC8251-1
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482365
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482366
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482367
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code482370
Order Code NameGeneSeq PLUS
Order Loinc19102-3
Result Code482368
Result Code NamePDF
UofM
Result LOINC51969-4