Funded by the
National Institutes of Health

Galactosemia | Classic Galactosemia | GALT Deficiency | Galactose-1-Phosphate Uridyltransferase Deficiency
Includes: Duarte Variant Galactosemia

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
ARUP Laboratories Biochemical Genetics Laboratory Salt Lake City, UT Edward R Ashwood, MD; Marzia Pasquali, PhD; Nicola Longo, MD, PhD; Patrice Held, PhD
ARUP Laboratories Molecular Genetics Laboratory Salt Lake City, UT Elaine Lyon, PhD; Rong Mao, MD; Edward R Ashwood, MD; Pinar Bayrak-Toydemir, MD, PhD
Academic Medical Centre, University of Amsterdam Laboratory Genetic Metabolic Diseases Amsterdam, Netherlands Ronald JA Wanders, PhD
Centogene GmbH Institute of Molecular Diagnostics Rostock, Germany Christoph Ehlers
Children's Hospital Boston DNA Diagnostic Laboratory Boston, MA Bai-Lin Wu, PhD, FACMG; David T Miller, MD, PhD, FACMG; Yiping Shen, PhD, FACMG
Children's Hospital and Regional Medical Center Biochemical and Molecular Genetics Laboratories Seattle, WA Sihoun Hahn, MD, PhD; Rhona Jack, PhD; C Ronald Scott, MD
Children's Mercy Hospital and Clinics Children's Mercy Hospital Molecular Genetics Laboratory Kansas City, MO Carol Saunders, PhD
Children's University Hospital G2/811 Human Genetics Berne, Switzerland Sabina Gallati, PhD, Prof.
Comprehensive Genetic Services, SC Molecular Diagnostic Laboratory Milwaukee, WI Anthony T Garber, PhD; Christine R Bryke, MD, FABMG
Emory University School of Medicine Emory Biochemical Genetics Laboratory Atlanta, GA Miao He, PhD
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Emory University School of Medicine Emory Molecular Genetics Laboratory Atlanta, GA Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
Faculty Hospital Brno Center of Molecular Biology and Gene Therapy Brno, Czech Republic Dana Dvorakova, PhD; Lenka Fajkusova, PhD; Sarka Pospisilova, RNDr
GENDA Ciudad autonoma de Buenos Aires, Argentina Viviana Bernath, PhD; Mariana Herrera, PhD
Greenwood Genetic Center Metabolic Laboratory Greenwood, SC Tim C Wood, PhD
Hamilton Regional Laboratory Medicine Program Molecular Diagnostic Genetics Hamilton, Ontario, Canada John S Waye, PhD
Mayo Clinic - Minnesota Biochemical Genetics Laboratory Rochester, MN Dietrich Matern, MD; Piero Rinaldo, MD, PhD; Silvia Tortorelli, MD, PhD; Dimitar K Gavrilov , MD, PhD; Devin Oglesbee, PhD; Kimiyo Raymond, MD
Mayo Clinic - Minnesota Molecular Genetics Laboratory Rochester, MN Stephen N Thibodeau, PhD; D Brian Dawson, PhD ; W Edward Highsmith, PhD; Kevin Halling, MD, PhD; Matthew John Ferber, PhD
New Jersey Medical School Institute of Genomic Medicine Newark, NJ James J Dermody, PhD
New York State Institute for Basic Research in Developmental Disabilities Biochemical Genetics Staten Island, NY Milen Velinov, MD, PhD
PerkinElmer Genetics, Inc. Bridgeville, PA Joseph M Quashnock, PhD, HCLD(ABB), FACB; Zhili Lin, MD, PhD, HCLD(ABB), FACB; John E Sherwin, PhD, DABCC
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Analysis of the entire coding region: Mutation scanning	Targeted mutation analysis	Linkage analysis	Analyte	Enzyme assay	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI Bruce R Krawisz, MD; James L Weber, PhD; Thomas L Winder, PhD, FACMG; Khemissa Bejaoui, PhD
Tulane University School of Medicine Hayward Genetics Center Molecular Diagnostics Laboratory New Orleans, LA Marilyn Li, MD
Tulane University School of Medicine Tulane Biochemical Genetics Laboratory New Orleans, LA Hans C Andersson, MD
University of Calgary Molecular Diagnostic Laboratory Calgary, Alberta, Canada Peter Bridge, PhD, FCCMG, FACMG; Jillian Parboosingh, PhD, FCCMG
University of Maryland Pediatric Biochemical Genetics Laboratory Baltimore, MD Erin T Strovel, PhD; Miriam G Blitzer, PhD
University of Miami Diagnostic Laboratories - Biochemical Genetics Miami, FL Carla Cuthbert, PhD; Louis J Elsas, MD, FFACMG
University of Miami Diagnostic Laboratories - Molecular Genetics Miami, FL Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG
University of Roma Tor Vergata Servizio di Genetica Rome, Italy Giuseppe Novelli, PhD; Federica Sangiuolo, PhD

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Funding Support
National Library of Medicine, NIH
National Human Genome Research Institute, NIH

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University of Washington
Seattle, Washington