Disorders

Gilbert Syndrome

Synonym(s): Hyperbilirubinemia Type I

Gene	Locus	Protein
UGT1A1	2q37	UDP-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	• 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	• 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	• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Targeted mutation analysis
Mayo Clinic, Nucleotide Polymorphism Lab - Rochester, MN, USA
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria	• 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	• Targeted mutation analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• 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.