Interferon-γ Receptor Deficiency: IFNGR2 (Full Gene Sequencing)

CPT: 81479
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Test Includes

This test covers all coding nucleotides of gene IFNGR2, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.


Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252730.

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

28 - 35 days


Related Documents

For more information, please view the literature below.

Consent for Genetic Testing (Consentimiento para análisis genético)


    Specimen Requirements


    Specimen

    Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)


    Volume

    2 mL


    Container

    Lavender-top (EDTA) tube


    Collection

    Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.


    Storage Instructions

    Maintain specimen at room temperature.


    Causes for Rejection

    Container broken or leaking; container not labeled or label not legible; improper anticoagulant


    Test Details


    Use

    Confirm a clinical diagnosis of IFNGR2; guide therapy; detect carriers; allow early diagnosis in family members


    Limitations

    This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

    Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.


    Methodology

    DNA sequencing


    Reference Interval

    Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.


    Additional Information

    Mendelian susceptibility to mycobacterial disease (MSMD), or familial atypical mycobacteriosis, is an inherited immune disorder characterized by the inability to clear mycobacterial infections. Interferon-γ receptor deficiency (IFNGRD) is the most common cause of NSMD and has been associated with mutations in the gene IFNGR1 or IFNGR2. Depending on the exact mutation, disease severity can range from a mild form, which is easily treatable with prophylactic antibiotics and interferon-γ therapy, to a severe form, for which stem-cell transplantation is recommended. Mode of inheritance is typically recessive for the more severe forms and can be recessive or dominant for the milder forms. Genetic testing can confirm a clinical diagnosis of IFNGRD, clarify the mode of inheritance, and detect mutation carriers within affected families.


    References

    Dorman SE, Picard C, Lammas D, et al. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet. 2004 Dec 11-17; 364(9451):2113-2121. 15589309
    Remus N, Reichenbach J, Picard C, et al. Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood. Pediatr Res. 2001 Jul; 50(1):8-13. 11420412
    Rosenzweig SD, Holland SM. Defects in the interferon-gamma and interleukin-12 pathways. Immunol Rev. 2005 Feb; 203:38-47. 15661020

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    252522 IGRD:IFNGR2 41103-3 252162 Routing 41103-3

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