Carnitine Palmitoyltransferase IA Deficiency | CPT1A Deficiency | Hepatic Carnitine Palmitoyltransferase 1 Deficiency | Hepatic CPT1 | L-CPT 1 Deficiency
Items 1 - 16 of 16
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Laboratories offering clinical testing:
Analysis of the entire coding region: Sequence analysisAnalysis of the entire coding region: Mutation scanningTargeted mutation analysisAnalyteEnzyme assayPrenatal diagnosisCarrier testing
Academic Medical Centre, University of Amsterdam
Amsterdam, Netherlands
Ronald JA Wanders, PhD
XXXXX
ARUP Laboratories
Salt Lake City, UT
Marzia Pasquali, PhD; Edward R Ashwood, MD; Nicola Longo, MD, PhD; Patrice Held, PhD
X
Baylor College of Medicine
Houston, TX
Sau W. Cheung, PhD; Christine M Eng, MD, FACMG; William E O'Brien, PhD; Lee-Jun Wong, PhD
XX
Baylor Research Institute
Dallas, TX
Lawrence Sweetman, PhD; Raphael Schiffmann, MD; Teodoro Bottiglieri, PhD; Jiahuan Ding, MD, PhD; Bingzhi Yang, MD
X
Center for Genetic Testing at Saint Francis
Tulsa, OK
Frederick V Schaefer, PhD, FACMG; Nancy J Carpenter, PhD, FACMG; Michael A Kayser, DO, FACMG
X
Children's Hospital of Philadelphia
Philadelphia, PA
Michael J Bennett, PhD, FRCPath, DABCC
XXX
Children's Hospital of Philadelphia
Philadelphia, PA
Catherine A Stolle, PhD
XXX
Emory University School of Medicine
Atlanta, GA
Madhuri Hegde, PhD, FACMG; Bradford Coffee, PhD, FACMG; Lora JH Bean, PhD, FACMG
XXX
Mayo Clinic - Minnesota
Rochester, MN
Kimiyo Raymond, MD; Dietrich Matern, MD; Piero Rinaldo, MD, PhD; Silvia Tortorelli, MD, PhD; Dimitar K Gavrilov, MD, PhD; Devin Oglesbee, PhD
X
Medical College of Wisconsin
Milwaukee, WI
William J Rhead, MD, PhD
XXX
Atlanta, GA
Keith Hyland, PhD; John M Shoffner, MD
XXX
Oregon Health & Science University (OHSU)
Portland, OR
Richard D Press, MD, PhD; Sue Richards, PhD
X
Bridgeville, PA
Joseph M Quashnock, PhD, HCLD(ABB), FACB; Zhili Lin, MD, PhD, HCLD(ABB), FACB; John E Sherwin, PhD, DABCC, FACB
X
Seattle Children's Hospital
Seattle, WA
Rhona Jack, PhD; C Ronald Scott, MD; Sihoun Hahn, MD, PhD
XXX
Stanford Clinical Laboratories
Palo Alto, CA
Tina M Cowan, PhD
X
University of Colorado and Health Sciences Center
Aurora, CO
Stephen I Goodman, MD; Michael Woontner, PhD; Johan Van Hove, MD, PhD
X
Note: Grid is blank for laboratories with a GeneTests Laboratory Directory status of Not Current (laboratory failed to provide annual review/verification).
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Items 1 - 16 of 16
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