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AIRE Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
AIRE
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
1393
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 112: Candidiasis Includes: infection by Candida species moniliasis
  • 255.4: Corticoadrenal insufficiency
  • 252.1: Hypoparathyroidism Parathyroiditis (autoimmune), Tetany: parathyroid parathyroprival
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Podkrajsek KT et al., 2008, Detection of complete autoimmune regulator gene deletion and two additional novel mutations [in atypical] autoimmune polyglandular syndrome type 1; Eur J Endocrinol 159: 633
  2. Heino M. et al., 2001, APECED Mutations in the Autoimmune Regulator (AIRE) Gene; Human Mutation 18:205-211
  3. Cetani F et al, 2001, A novel mutation of the [AIRE] geneā€¦ acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747

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