β-Thalassemia: HBB (Known Mutation)

TEST: 252827
Test number copied
CPT: 81362
Print Share

Test Includes

This test looks for presence or absence of familial mutations. The number of amplicons tested depends on the number and location of the familial mutations.

Special Instructions

This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order β-Thalassemia: HBB (Full Gene Sequencing) [252823].

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. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Expected Turnaround Time

21 - 28 days

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.

Beta Hemoglobinopathies Genetic Testing

Consent for Genetic Testing (Consentimiento para análisis genético)

    Specimen Requirements

    Specimen

    Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab); DNA is also accepted. (Call 800-345-4363 for DNA collection information.)

    Volume

    2 mL whole blood or 4 buccal swabs

    Minimum Volume

    2 mL whole blood or 2 buccal swabs

    Container

    Lavender-top (EDTA) tube or LabCorp buccal swab kit

    Collection

    Ship overnight at room temperature.

    Causes for Rejection

    Frozen specimen; hemolysis; quantity not sufficient foranalysis; improper container; one buccal swab; wet buccal swab

    Test Details

    Limitations

    This method does not reliably detect mosaic variants, deep intronic variants, large deletions, large duplications, inversions or other rearrangements. Assay results may be affected by the presence of homopolymer repeats or by allele-dropout due to sequence polymorphisms in primer binding sites. This assay does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

    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

    DNA sequencing

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    252827 Beta Thalassemia: HBB Family 21689-5 252212 Routing 21689-5

    For Providers

    Please login to order a test

    Order a Test

    © 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

    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