Disorders

Muckle-Wells Syndrome

Synonym(s): UDA Syndrome, Urticaria-Deafness-Amyloidosis Syndrome

Gene	Locus	Protein
NLRP3	1q44	NACHT, LRR and PYD domains-containing protein 3

Laboratory	Test Method	Prenatal	Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Sequence analysis of select exons
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France	• Sequence analysis of select exons • Mutation scanning of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• FISH-metaphase • FISH-interphase
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.