Disorders


 

Incontinentia Pigmenti


Synonym(s): Bloch-Sulzberger Syndrome, IP

 

GeneReviewOMIM

GeneLocusProtein
IKBKGXq28NF-kappa-B essential modulator

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Sequence analysis of the entire coding region
• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Sequence analysis of the entire coding region
• Mutation scanning of the entire coding region
• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Linkage analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of the entire coding region
• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Targeted mutation analysis

* 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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