Disorders


 

Muckle-Wells Syndrome


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

 

OMIM

GeneLocusProtein
NLRP31q44NACHT, LRR and PYD domains-containing protein 3

Laboratory Test Method Prenatal Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• Sequence analysis of the entire coding region
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
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• Sequence analysis of the entire coding region
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• FISH-metaphase
• FISH-interphase
 
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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