Disorders


 

Gilbert Syndrome


Synonym(s): Hyperbilirubinemia Type I

 

OMIM

GeneLocusProtein
UGT1A12q37UDP-glucuronosyltransferase 1-1

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Targeted mutation analysis
 
BioAnalytica-GenoType S.A., Molecular Cytogenetic Research and Applications Lab - Athens, Greece• Targeted mutation analysis
 
BioLab spol. s.r.o., Molecular Biology Laboratory - Klatovy, Czech Republic• Targeted mutation analysis
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Targeted mutation analysis
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of select exons
• Targeted mutation analysis
 
CGC Genetics - Porto, Portugal• Targeted mutation analysis
 
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA• Targeted mutation analysis
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA• Targeted mutation analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
• Mutation scanning of select exons
 
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA• Targeted mutation analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
 
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Sequence analysis 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
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
Mayo Clinic, Nucleotide Polymorphism Lab - Rochester, MN, USA• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Targeted mutation analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA• Targeted mutation analysis
 
Research and Innovation - Padova, Italy• Targeted mutation analysis
 
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• 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
• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
 
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic• Targeted mutation analysis
 
University Medical Center St Radboud, Laboratory of Gastroenterology and Hepatology - Nijmegen, Netherlands• Sequence analysis of select exons
• Targeted mutation analysis
 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• 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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