Disorders

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne

Synonym(s): Familial Recurrent Arthritis, PAPA Syndrome

Gene	Locus	Protein
PSTPIP1	15q24-q25.1	Proline-serine-threonine phosphatase-interacting protein 1

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France	• Mutation scanning of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* 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.