GeneSeq® PLUS, DMD

TEST: 482466
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CPT: 81161
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Synonyms

  • Duchenne or Becker muscular dystrophy
  • Dystrophinopathy

Special Instructions

If requesting full gene sequencing for multiple genes, order GeneSeq® PLUS [482370].

To test fetal specimens, including cordblood, order GeneSeq® PLUS, Fetal Analysis [482389].

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

Expected 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.

Related Documents

For more information, please view the literature below.

Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS

    Specimen Requirements

    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

    Collection

    Standard phlebotomy; follow 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

    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 for carrier and diagnostic testing for Duchenne and Becker muscular dystrophy and x-linked cardiomyopathy.

    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 genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    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
    482466 GeneSeq PLUS, DMD 482450 Test Detail 19102-3
    482466 GeneSeq PLUS, DMD 482451 Ethnicity 42784-9
    482466 GeneSeq PLUS, DMD 482452 Specimen Type 31208-2
    482466 GeneSeq PLUS, DMD 482453 Genetic Counselor 89993-0
    482466 GeneSeq PLUS, DMD 482454 Indication 42349-1
    482466 GeneSeq PLUS, DMD 482455 Result: 22075-6
    482466 GeneSeq PLUS, DMD 482456 Interpretation 53039-4
    482466 GeneSeq PLUS, DMD 482457 General Comments 8262-8
    482466 GeneSeq PLUS, DMD 482458 Recommendations 59266-7
    482466 GeneSeq PLUS, DMD 482459 Additional ClinicalInformation 55752-0
    482466 GeneSeq PLUS, DMD 482460 Comments 8251-1
    482466 GeneSeq PLUS, DMD 482461 Methods/Limitations 49549-9
    482466 GeneSeq PLUS, DMD 482462 References 75608-0
    482466 GeneSeq PLUS, DMD 482463 Director Review/Release 72486-4
    482466 GeneSeq PLUS, DMD 482464 PDF 51969-4

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    CPT Statement/Profile Statement

    The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf