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Canavan Disease | Aspa Deficiency | Aspartoacylase Deficiency

Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisTargeted mutation analysisLinkage analysisAnalyteEnzyme assayDeletion/duplication analysisPrenatal diagnosisCarrier testing
ARUP Laboratories
Salt Lake City, UT
Edward R Ashwood, MD; Marzia Pasquali, PhD; Nicola Longo, MD, PhD; Patrice Held, PhD
     X        
ARUP Laboratories
Salt Lake City, UT
Elaine Lyon, PhD; Rong Mao, MD; Edward R Ashwood, MD; Pinar Bayrak-Toydemir, MD, PhD
 X        XX
Ambry Genetics Corp
Aliso Viejo, CA
James Thompson, MD, PhD
X        XXX
Baylor College of Medicine
Houston, TX
Christine M Eng, MD, FACMG; William E O'Brien, PhD; Lee-Jun Wong, PhD; Sau W. Cheung, PhD
 X          X
Baylor Research Institute
Dallas, TX
Charles R Roe, MD; Lawrence Sweetman, PhD; Xiaowei Fu, PhD, MD; Teodoro Bottiglieri, PhD; Jiahuan Ding, MD, PhD; Bingzhi Yang, MD; Raphael Schiffmann, MD
     X        
Beaumont Hospital, Royal Oak
Royal Oak, MI
Domnita Crisan, MD
               
Boston University School of Medicine
Boston, MA
Aubrey Milunsky, MD, DSc
 X        XX
Center for Genetic Testing at Saint Francis
Tulsa, OK
Nancy J Carpenter, PhD, FACMG; Frederick V Schaefer, PhD, FACMG; Michael A Kayser, DO, FACMG
     X        
Centogene GmbH
Rostock, Germany
Christoph Ehlers
X              
Children's Hospital and Regional Medical Center
Seattle, WA
Sihoun Hahn, MD, PhD; Rhona Jack, PhD; C Ronald Scott, MD
 X        XX
Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisTargeted mutation analysisLinkage analysisAnalyteEnzyme assayDeletion/duplication analysisPrenatal diagnosisCarrier testing
Detroit Medical Center University Laboratories
Detroit, MI
Gerald L Feldman, MD, PhD, FACMG; Fatimah Nahhas, PhD
 X        XX
Duke University Medical Center
Durham, NC
David S Millington, PhD; Dwight D Koeberl, MD, PhD
     X        
Edith Wolfson Medical Center
Holon, Israel
Esther Leshinsky-Silver, PhD
 X        X  
Emory University School of Medicine
Atlanta, GA
Fran Kendall, MD; Miao He, PhD
     X        
Emory University School of Medicine
Atlanta, GA
Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
 X        XX
Genos
Buenos Aires, Argentina
Jose Maria Sanchez, MD
 X        XX
Genzyme Genetics
Westborough, MA
Nicole Faulkner Castro, PhD, DABMG; Narasimhan Nagan, PhD, FACMG ; Ruth Heim, PhD, FACMG; Elizabeth Rohlfs, PhD, FACMG; Lynne Rosenblum-Vos, PhD, FACMG; Deborah Alexa Sirko-Osadsa, PhD, FACMG; Zhaoqing Zhou, PhD, DABMG; Hui Zhu, PhD, FACMG
 X        XX
Greenwood Genetic Center
Greenwood, SC
Tim C Wood, PhD
     X        
Ha'Emek Medical Center
Afula, Israel
Yasir Hujeirat, PhD
 X        X  
Hartford Hospital-Hartford-CT-USA
Newington, CT
Laila Mnayer, MS, PhD, FACMG
 X        XX
Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisTargeted mutation analysisLinkage analysisAnalyteEnzyme assayDeletion/duplication analysisPrenatal diagnosisCarrier testing
Kennedy Krieger Institute
Baltimore, MD
Richard I Kelley, MD, PhD; Lisa E. Kratz, PhD
     X    X  
LabCorp
Research Triangle Park, NC
Kenneth J Friedman, PhD
 X        XX
Massachusetts General Hospital
Charlestown, MA
Vivian E Shih, MD
     X        
Mayo Clinic - Minnesota
Rochester, MN
Dietrich Matern, MD; Piero Rinaldo, MD, PhD; Silvia Tortorelli, MD, PhD; Dimitar K Gavrilov , MD, PhD; Devin Oglesbee, PhD; Kimiyo Raymond, MD
     X        
Mayo Clinic - Minnesota
Rochester, MN
Stephen N Thibodeau, PhD; D Brian Dawson, PhD ; W Edward Highsmith, PhD; Kevin Halling, MD, PhD; Matthew John Ferber, PhD
 X        XX
McGill University Health Centre
Montreal, Quebec, Canada
Andrea Frota-Ruchon, MD, PhD, FABMG, FCCMG
 X        XX
Mount Sinai School of Medicine
New York, NY
Ruth Kornreich, PhD; Lisa Edelmann, PhD
 X        XX
New Jersey Medical School
Newark, NJ
James J Dermody, PhD
 X        XX
New York University School of Medicine
New York, NY
Harry Ostrer, MD; Carole Oddoux, PhD
 X          X
New York University School of Medicine
New York, NY
Edwin H Kolodny, MD
XX    X    X
Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisTargeted mutation analysisLinkage analysisAnalyteEnzyme assayDeletion/duplication analysisPrenatal diagnosisCarrier testing
Northwick Park & St Mark's Hospitals
Harrow, United Kingdom
Stewart Payne, DipRCPath
X        XXX
Opmedic Group Inc.
Mont-Royal, Quebec, Canada
Gilles Brisson, PhD, CSPQ, FACB
 X          X
Oregon Health & Science University
Portland, OR
Cary O Harding, MD, FACMG; Sue Richards, PhD
     X        
ProGene, Inc
Glendale, CA
Toni R Prezant, PhD; William Huang, MD
 XX      XX
Quest Diagnostics Nichols Institute - California
San Juan Capistrano, CA
Charles Strom, MD, PhD; Weimin Sun, PhD, ABMG, CGMB, CLSP(MB); Arlene Buller, PhD, DABMG, HCLD, CGMB; Mei Peng, PhD, FACMG, CGMB; Franklin Quan, PhD, FACMG, CGMB
 X        XX
Rabin Medical Center
Petah Tikva, Israel
Mordechai Shohat, MD
 X        XX
Ruhr University
Bochum, Germany
Joerg Thomas Epplen, Prof. MD
X          XX
Stanford Clinical Laboratories
Palo Alto, CA
Tina M Cowan, PhD
     X        
Stanford Clinical Laboratories
Palo Alto, CA
Iris Schrijver, MD; James L Zehnder, MD
 X          X
The Hospital for Sick Children
Toronto, Ontario, Canada
Peter N Ray, PhD, FCCMG, FACMG; Tracy L Stockley, PhD, FCCMG
 X        XX
Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisTargeted mutation analysisLinkage analysisAnalyteEnzyme assayDeletion/duplication analysisPrenatal diagnosisCarrier testing
University of Alabama at Birmingham
Birmingham
J Daniel Sharer, PhD; S Lane Rutledge, MD, FACMG
     X        
University of Calgary
Calgary, Alberta, Canada
Peter Bridge, PhD, FCCMG, FACMG; Jillian Parboosingh, PhD, FCCMG
 X        XX
University of California San Diego
La Jolla, CA
Linda M Wasserman, MD
 X          X
University of California San Diego
La Jolla, CA
Bruce A Barshop, MD, PhD; William L Nyhan, MD, PhD
               
University of Colorado Denver School Medicine
Aurora, CO
Elaine B Spector, PhD; Gunter Scharer, MD, PhD
 X          X
University of Colorado and Health Sciences Center
Aurora, CO
Stephen I Goodman, MD; Michael Woontner, PhD
     X        
University of Maryland
Baltimore, MD
Erin T Strovel, PhD; Miriam G Blitzer, PhD
     X        
University of Miami
Miami, FL
Lisa Baumbach Reardon, PhD, FACMG; Louis J Elsas, MD, FFACMG
               
VU University Medical Center
Amsterdam, Netherlands
Cornelis Jakobs, PhD, Prof; Gajja S Salomons, PhD; Henk Blom, PhD
X    X  XXX
Yale University School of Medicine
New Haven, CT
Margretta R Seashore, MD
     X        
Note: Grid is blank for laboratories with a GeneTests Laboratory Directory status of Not Current (laboratory failed to provide annual review/verification).


Disclaimer: GeneTests does not independently verify information provided by laboratories and does not warrant any aspect of a laboratory's work.

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National Human Genome Research Institute, NIH

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