IL2RG Gene Sequencing

Forms and Documents

Test Details

IL2RG
  • Confirmation of a clinical diagnosis
  • Molecular follow-up to abnormal result in newborn screen for T-cell receptor excision circles
  • Differentiation between X-linked and autosomal forms of SCID
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

492
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81405x1
No
Yes
  • 279.2 Combined immunity deficiency
  • 279.1 Deficiency of cell-mediated immunity
* For price inquiries please email zebras@genedx.com

References

  1. Human Gene Mutation Database (Biobase International, professional version 2010.4).
  2. Pepper et al. (1995) Am J Hum Genet 57:564-571.
  3. Puck et al. (1997) Blood 89(6):1968-1977
  4. Niemela et al. (2000) Clinical Immunology 95(1): 33-38.
  5. Kalman et al. (2004) Genetics is Medicine (review) 6(1): 16-26
  6. GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1993- 2010. Available at http://www.ncbi.nlm.nih.gov Accessed 08-2010.