Disorders


 

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne


Synonym(s): Familial Recurrent Arthritis, PAPA Syndrome

 

OMIM

GeneLocusProtein
PSTPIP115q24-q25.1Proline-serine-threonine phosphatase-interacting protein 1

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
  
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
  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
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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