Test Code: 1180

Hyper IgE Syndromes: Deletion/Duplication Panel
Test Code: 1180
Turnaround time: 3 weeks

CONDITION DESCRIPTION

Hyper IgE syndromes (HIES) are characterized by highly elevated levels of IgE, eczema, and recurrent skin and respiratory tract infections. An autosomal dominant form of HIES is caused by pathogenic variants in STAT3 and also involves connective tissue, vascular, and skeletal abnormalities. The autosomal recessive form is caused by pathogenic variants in DOCK8 and causes an increased incidence of neurological abnormalities and viral infections of the skin. Other disorders with elevated IgE and similar symptoms include tyrosine kinase 2 deficiency caused by pathogenic variants in TYK2 and Netherton syndrome caused by pathogenic variants in SPINK5.

References:

  • GeneReviews.
  • OMIM.

GENES
DOCK8,SPINK5,STAT3,TYK2

INDICATIONS
This test is indicated for:

  • Confirmation of a clinical diagnosis of Hyper IgE Syndromes.

METHODOLOGY

Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.

Please note that a “backbone” of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off- target copy number variants causative of disease may be identified that may or may not be related to the patient’s phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.

DETECTION

Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types

Type: Whole Blood
Specimen Requirements: In EDTA (purple top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml.

Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.

Type: Isolated DNA
Specimen Requirements: In microtainer: 10 μg
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.

Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.

RELATED TESTS

  • Hyper IgE Syndromes: Sequencing Panel