Disorders

Chronic Infantile Neurological Cutaneous and Articular Syndrome

Synonym(s): CINCA Syndrome, Neonatal-Onset Multisystem Inflammatory Disease, NOMID

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

Laboratory	Test Method	Prenatal	Carrier *
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
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of the entire coding region • Linkage analysis
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 select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• 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.