Funded by the
National Institutes of Health

Transthyretin Amyloidosis
Includes: Familial Amyloid Cardiomyopathy | Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type) | Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type) | Familial Oculoleptomeningeal Amyloidosis | Leptomeningeal Amyloidosis

Select all clinical laboratories
Laboratories offering clinical testing:	Analysis of the entire coding region: Sequence analysis	Sequence analysis of select exons	Targeted mutation analysis	Linkage analysis	Protein analysis	Deletion/duplication analysis	Prenatal diagnosis
Ambry Genetics Corp Ambry Genetics Aliso Viejo, CA James Thompson, MD, PhD
Athena Diagnostics Inc Reference Lab Worcester, MA Sat Dev Batish, PhD, FACMG; Masamichi Ito, PhD, FACMG; Christine M Stanley, PhD, FACMG
Children's & Women's Health Centre of BC Molecular Genetics Laboratory Vancouver, British Columbia, Canada Brett Casey, MD
Cyprus Institute of Neurology and Genetics Neurogenetics Department Nicosia, Cyprus Kyproula Christodoulou, PhD
GeneDx Gaithersburg, MD Sherri J Bale, PhD, FACMG; John G Compton, PhD; Anne Maddalena, PhD, FACMG ; Gabriele Richard, MD, FACMG
Harvard Medical School Laboratory for Molecular Medicine Boston, MA Raju Kucherlapati, PhD; Heidi Rehm, PhD; Victoria Joshi, PhD; Birgit Funke, PhD
Johns Hopkins Hospital DNA Diagnostic Laboratory Baltimore, MD Garry R Cutting, MD; Steven J Steinberg, PhD
Kingston General Hospital DNA Diagnostic Laboratory Kingston, Ontario, Canada Harriet Feilotter, PhD, FCCMG
London Health Sciences Centre Molecular Diagnostic Laboratory London, Ontario, Canada Peter J Ainsworth, BSc, PhD, MBChB, FRCPC
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
Sistemas Genomicos Medical Genetics Unit Paterna, Valencia, Spain Javier Garcia-Planells, PhD
Toronto Medical Laboratories, University Health Network Molecular Diagnostics Laboratory Toronto, Ontario, Canada Suzanne Kamel-Reid, PhD, FACMG
University Hospital of Umea Department of Clinical Genetics Umea, Sweden Irina Golovleva, PhD

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

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