Disorders

Hyper IgD Syndrome

Synonym(s): Hyperimmunoglobulinemia D and Periodic Fever Syndrome, Periodic Fever, Dutch Type

Gene	Locus	Protein
MVK	12q24	Mevalonate kinase

Laboratory	Test Method	Prenatal	Carrier *
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France	• Mutation scanning of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.