Funded by the
National Institutes of Health

Shwachman-Diamond Syndrome | Pancreatic Insufficiency and Bone Marrow Dysfunction | Shwachman syndrome | Shwachman-Bodian-Diamond Syndrome

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Targeted mutation analysis	Linkage analysis	Prenatal diagnosis	Carrier testing
Academic Medical Centre, University of Amsterdam DNA Diagnostics Laboratory Amsterdam, Netherlands Marcel M.A.M. Mannens, PhD
Ambry Genetics Corp Ambry Genetics Aliso Viejo, CA James Thompson, MD, PhD
Centogene GmbH Institute of Molecular Diagnostics Rostock, Germany Christoph Ehlers
GeneDx Gaithersburg, MD Sherri J Bale, PhD, FACMG; John G Compton, PhD; Anne Maddalena, PhD, FACMG ; Gabriele Richard, MD, FACMG
Sistemas Genomicos Medical Genetics Unit Paterna, Valencia, Spain Javier Garcia-Planells, PhD
St Mary's Hospital Manchester Regional Molecular Genetics Service Manchester, United Kingdom Rob Elles, Dr, PhD, FRCPath; Andrew Wallace, Dr, PhD, DipRCPath
The Hospital for Sick Children Molecular Genetics Laboratory Toronto, Ontario, Canada Peter N Ray, PhD, FCCMG, FACMG; Tracy L Stockley, PhD, FCCMG

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

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University of Washington
Seattle, Washington