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AICDA Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
AICDA
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differential diagnosis from other types of B cell immunodeficiency
  • Carrier testing in siblings or other relatives
  • Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 279.05: Immunodeficiency with increased IgM, Immunodeficiency with hyper-IgM: autosomal recessive X-linked
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Revy P., et al, 2000. Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2), Cell 102:565-575.
  2. Kasahara Y., 2003. Hyper IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase. J. Allergy Clin Immunol 112:755-760.
  3. Durandy A. et al., 2006. Activation-Induced Cytidine Deaminase: Structure-Function Relationship as Based on the Study of Mutants, Human Mutation 27:1185-1191.
  4. Lee, W. et al (2005) Blood 105(5):1881-1890

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