FBN1 (Marfan Syndrome) Single Gene Analysis

TEST: 482336
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CPT: 81408
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Special Instructions

In cases in which there is a known variant documented in the family, the physician may prefer to order Targeted Variant Analysis [482552].

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 review the literature below.

Consent for genetic testing

GenSeq®: Cardio brochure

Familial Aortopathies Clinical Questionnaire

    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

    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.

    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

    Buccal: 60 days at room temperature

    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 diagnostic testing for Marfan syndrome and presymptomatic testing for family members.

    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
    482336 FBN1: Marfan Syndrome 77114-7 482319 Test Detail 19102-3
    482336 FBN1: Marfan Syndrome 77114-7 482320 Ethnicity 42784-9
    482336 FBN1: Marfan Syndrome 77114-7 482321 Specimen Type 31208-2
    482336 FBN1: Marfan Syndrome 77114-7 482322 Genetic Counselor 89993-0
    482336 FBN1: Marfan Syndrome 77114-7 482323 Indication 42349-1
    482336 FBN1: Marfan Syndrome 77114-7 482324 Result: 77114-7
    482336 FBN1: Marfan Syndrome 77114-7 482325 Interpretation 53039-4
    482336 FBN1: Marfan Syndrome 77114-7 482326 General Comments 8262-8
    482336 FBN1: Marfan Syndrome 77114-7 482327 Recommendations 62385-0
    482336 FBN1: Marfan Syndrome 77114-7 482328 Additional ClinicalInformation 55752-0
    482336 FBN1: Marfan Syndrome 77114-7 482329 Comments 8251-1
    482336 FBN1: Marfan Syndrome 77114-7 482330 Methods/Limitations 49549-9
    482336 FBN1: Marfan Syndrome 77114-7 482331 References 75608-0
    482336 FBN1: Marfan Syndrome 77114-7 482332 Director Review/Release 72486-4
    482336 FBN1: Marfan Syndrome 77114-7 482334 PDF 51969-4

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