Disorders


 

Interleukin 1 Receptor Antagonist Deficiency


Synonym(s): DIRA Syndrome

 

OMIM

GeneLocusProtein
IL1RN2q14.2Interleukin-1 receptor antagonist protein

Laboratory Test Method Prenatal Carrier *
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France• Sequence analysis of the entire coding region
• Mutation scanning of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar• Sequence analysis of the entire coding region
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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