Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

Jobs Syndrome

Hyper-IgE syndromes caused by mutations in the STAT3 and DOCK8 genes are characterized by eczema, sinopulmonary infections and greatly elevated serum IgE. Elevated IgE has also been observed in an individual with TYK2 deficiency and in individuals with Netherton syndrome, a disorder associated with mutations in the SPINK5 gene.

Hyper-IgE syndromes caused by mutations in the STAT3 and DOCK8 genes are characterized by eczema, sinopulmonary infections and greatly elevated serum IgE. Elevated IgE has also been observed in an individual with TYK2 deficiency and in individuals with Netherton syndrome, a disorder associated with mutations in the SPINK5 gene.

Tests Available

Hyper-IgE Syndromes Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
DOCK8, SPINK5, STAT3, TYK2
Clinical Utility:
  • Differential diagnosis for patients with elevated IgE
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH|Next-gen Sequencing

ORDERING

Test Code:
678
Turnaround Time:
8-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1, 88271x55, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 680: Carbuncle and furuncle Includes: boil furunculosis
  • 481: Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia], Lobar pneumonia, organism unspecified
  • 482: Other bacterial pneumonia
  • 513: Abscess of lung and mediastinum
  • 288.1: Functional disorders of polymorphonuclear neutrophils, Chronic (childhood) granulomatous disease, Congenital dysphagocytosis, Job's syndrome, Lipochrome histiocytosis (familial), Progressive septic granulomatosis
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Minegishi Y et al., Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyperIgE syndrome, Nature 448:1058-1062, 2007
  2. Holland SM et al., STAT3 mutations in the Hyper-IgE syndrome, NEJM 357:1608-1619, 2007.
  3. Renner ED et al., STAT3 mutation in the original patient with Job’s syndrome, NEJM 357:1667-1668, 2007
  4. Schimke, LF et al, Diagnostic approaches to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis, J Allergy Clin Immunol, 126:611- 617, 2010.
  5. Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations, NEJM 361:2046- 2055, 2009.
  6. gelhardt, KR, et al., Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome, J Allergy Clin Immunol 124:1289- 1302, 2009.

Back To Top