Disorders


 

Acid Sphingomyelinase Deficiency


 

GeneReviewOMIM

GeneLocusProtein
SMPD111p15.4-p15.1Sphingomyelin phosphodiesterase

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands  
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Targeted mutation analysis
• Enzyme assay
  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics, Inc - Cambridge, MA, USA• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Enzyme assay
  
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Enzyme assay
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Enzyme assay
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Targeted mutation analysis
  
GeneDx - Gaithersburg, MD, USA• Targeted mutation analysis
  
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic  
Genetrack Biolabs Inc., Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
  
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA• Targeted mutation analysis
  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Enzyme assay
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
LabCorp, Molecular Biology - Research Triangle Park, NC, USA• Targeted mutation analysis
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Targeted mutation analysis
  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA• Targeted mutation analysis
  
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA• Targeted mutation analysis
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Enzyme assay
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Enzyme assay
  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Enzyme assay
  
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
  
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Enzyme assay
  
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany  
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• Targeted mutation analysis
  
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, USA• Enzyme assay
  

* 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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