Disorders


 

Phenylalanine Hydroxylase Deficiency


Synonym(s): PAH Deficiency

 

GeneReviewOMIM

GeneLocusProtein
PAH12q22-q24.2Phenylalanine-4-hydroxylase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA• Analyte
  
Burc Molecular Genetics Laboratory - Istanbul, Turkey• Targeted mutation analysis
  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Analyte
  
Center for Human Genetics, Inc - Cambridge, MA, USA  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
  
Dayton Children's Medical Center, Molecular and Biochemical Genetics Laboratory - Dayton, OH, USA• Analyte
  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
  
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA• Analyte
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia• Targeted mutation analysis
• Linkage analysis
  
Genomac International, s.r.o., Laboratory for Molecular Genetics - Prague, Czech Republic• Targeted mutation analysis
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Targeted mutation analysis
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
  
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
  
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada• Sequence analysis of select exons
  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of select exons
  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA• Analyte
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Analyte
  
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
  
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Analyte
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA• Targeted mutation analysis
• Linkage analysis
  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Analyte
  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain  
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Mutation scanning of the entire coding region
• Analyte
  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA• Analyte
  
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA• Analyte
  
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA• Analyte
  
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA• Analyte
  
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Analyte
  
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, USA  
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA• Analyte
  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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