Hypohidrotic Ectodermal Dysplasia With Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation)

TEST: 252744
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CPT: 81479
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Test Includes

All coding nucleotides of the specified gene(s), plus at least two and typically 20 nucleotides flanking each coding region.

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 test 252539.

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.

Consent for Genetic Testing (Consentimiento para análisis genético)

    Test Details

    Methodology

    DNA sequencing

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    252744 HED-ID: IKBKG Family 57753-6 252081 Routing 57753-6

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