IL7R Gene Sequencing

Forms and Documents

Test Details

  • Confirmation of the clinical diagnosis
  • Differential diagnosis from other types of SCID
  • Carrier testing in siblings or other relatives
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing


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


  • 279.2 Combined immunity deficiency
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  1. Puel, A et al, 1998, Nat Gen 20: 394-397, Defective IL7R expression in T-B+NK+ severe combined immune deficiency
  2. Roifman, C et al, 2000, Blood 96:2803-2807, A partial deficiency of interleukin-7Ralpha is sufficient to abrogate T-cell development and cause severe combined immune deficiency
  3. Giliani S et al, 2006, J Pediatr 148:272-4, Omenn Syndrome in an infant with IL7RA gene mutation
  4. Giliani S et al, 2005, Immunol Rev 203:110-126, Interleukin-7 receptor alpha (IL7-Rappha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel mutations
  5. Butte MJ et al, 2007, Clin Immunol 125:159, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD