Funded by the
National Institutes of Health

Krabbe Disease | GALC Deficiency | Galactocerebrosidase Deficiency | Galactosylceramidase Deficiency | Globoid Cell Leukodystrophy

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Targeted mutation analysis	Linkage analysis	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
Adelaide Women's and Children's Hospital National Referral Laboratory North Adelaide, Australia Michael J Fietz, PhD
Baylor College of Medicine Medical Genetics Laboratories Houston, TX Christine M Eng, MD, FACMG; William E O'Brien, PhD; Lee-Jun Wong, PhD; Sau W. Cheung, PhD
Centogene GmbH Institute of Molecular Diagnostics Rostock, Germany Christoph Ehlers
Centre for DNA Fingerprinting and Diagnostics Diagnostics Division Hyderabad, India Ashwin B Dalal, DM (Medical Genetics)
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
Emory University School of Medicine Emory Molecular Genetics Laboratory Atlanta, GA Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
Greenwood Genetic Center Metabolic Laboratory Greenwood, SC Tim C Wood, PhD
Karolinska University Hospital Department of Clinical Genetics Stockholm, Sweden Magnus Nordenskjold, MD, PhD; Kristina Lagerstedt Robinson, PhD; Helena Malmgren, 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
Memorial University of Newfoundland Molecular Genetics Laboratory St. John's, Newfoundland, Canada Yagang Xie, MD, Dr Med Sci, FCCMG
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Targeted mutation analysis	Linkage analysis	Enzyme assay	Deletion/duplication analysis	Prenatal diagnosis	Carrier testing
New York State Institute for Basic Research in Developmental Disabilities Biochemical Genetics Staten Island, NY Milen Velinov, MD, PhD
New York University School of Medicine NYU Neurogenetics Laboratory New York, NY Edwin H Kolodny, MD
PreventionGenetics Molecular Diagnostics and BioBanking Marshfield, WI Bruce R Krawisz, MD; James L Weber, PhD; Thomas L Winder, PhD, FACMG; Khemissa Bejaoui, PhD
Thomas Jefferson University Lysosomal Diseases Testing Laboratory Philadelphia, PA David A Wenger, PhD; Paola Luzi, PhD
University of Calgary Molecular Diagnostic Laboratory Calgary, Alberta, Canada Peter Bridge, PhD, FCCMG, FACMG; Jillian Parboosingh, PhD, FCCMG
University of Illinois Medical Center at Chicago Biochemical Genetics Laboratory Chicago, IL George Hoganson, MD
University of Maryland Pediatric Biochemical Genetics Laboratory Baltimore, MD Erin T Strovel, PhD; Miriam G Blitzer, PhD

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

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University of Washington
Seattle, Washington