AIRE Gene Sequencing

Forms and Documents

Test Details

AIRE
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

Ordering

1393
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81406x1
No
Yes
  • 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] gene… acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis: Journal of Clin Endocr Metab 86:4747