Hypohidrotic Ectodermal Dysplasia With Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing)

CPT: 81479
Updated on 1/24/2018
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Test Details

Test Includes

This test covers all coding nucleotides of gene IKBKG (NEMO), 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.

Use

Confirm a clinical diagnosis of HED-ID; detect carriers; allow early diagnosis in family members, guiding prophylactic measures

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

Hypohydrotic ectodermal dysplasia with immune deficiency (HED-ID) is an X-linked immune disorder characterized by increased susceptibility to severe, recurrent, and atypical infections with bacteria, viruses, or, more rarely, fungi, and abnormal development of ectoderm-derived skin structures, including teeth, hair, nails, and eccrine sweat glands. The immunodeficiency phenotype is recessively inherited and thus usually male-limited, can also occur without the ectodermal manifestations, and has been associated with mutations in the gene IKBKG (also known as NEMO) that lead to partial loss of activity. Mutations in IKBKG leading to complete loss of activity are typically prenatally lethal in males and give rise to an isolated ectodermal phenotype known as Incontinentia pigmenti that is dominantly inherited and female-limited. Genetic testing can confirm a clinical diagnosis of HED-ID and detect mutation carriers within affected families.

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; use of improper anticoagulant

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252744.

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.

References

Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol. 2004 Apr; 113(4):725-733. 15100680

For Providers

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