Disorders


 

Smith-Lemli-Opitz Syndrome


Synonym(s): RSH Syndrome, SLO Syndrome, SLOS, Smith Lemli Opitz Syndrome

 

GeneReviewOMIM

GeneLocusProtein
DHCR711q13.47-dehydrocholesterol reductase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of select exons
  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Inc - Cambridge, MA, USA  
CGB Laboratory Inc - Ostrava, Czech Republic• Targeted mutation analysis
  
CGC Genetics - Porto, Portugal  
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
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  
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada• Targeted mutation analysis
  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA• Analyte
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
  
Medgene, MedGene - Bratislava, Slovakia  
Oregon Health and Science University, Lipid-Atherosclerosis and Sterols Analysis Lab - Portland, OR, USA• Analyte
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA• Analyte
  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Targeted mutation analysis
• Analyte
  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Analyte
  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• 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.

Loading...