Disorders


 

Ichthyosis, X-Linked


Synonym(s): Placental Steroid Sulfatase Deficiency, Steroid Sulfatase Deficiency

 

OMIM

GeneLocusProtein
STSXp22.32Steryl-sulfatase

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark  
Akron Children's Hospital, Cytogenetics Laboratory - Akron, OH, USA• FISH-metaphase
  
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA• FISH-metaphase
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
• Enzyme assay
  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey• FISH-metaphase
  
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA• FISH-metaphase
  
Center for Human Genetics, Inc - Cambridge, MA, USA• FISH-metaphase
  
Centogene AG, Rare Disease Company - Rostock, Germany  
GeneDx - Gaithersburg, MD, USA• FISH-metaphase
• FISH-interphase
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Genetics Associates, Inc. - Nashville, TN, USA• FISH-metaphase
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA• FISH-metaphase
• FISH-interphase
  
Indiana University School of Medicine, Cytogenetics Laboratory - Indianapolis, IN, USA• FISH-metaphase
  
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA• FISH-metaphase
  
Integrated Genetics, Molecular Cytogenetics Laboratory - Monrovia, CA, USA• FISH-metaphase
  
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA• FISH-metaphase
• FISH-interphase
  
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA• FISH-metaphase
• FISH-interphase
  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• FISH-metaphase
  
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA• FISH-metaphase
  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory - Cytogenetics and Cytogenomics Lab - New York, NY, USA• FISH-metaphase
• FISH-interphase
  
Nationwide Children's Hospital, ChildLab Cytogenetics Laboratory - Columbus, OH, USA• FISH-metaphase
  
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA• Analyte
  
Quest Diagnostics Nichols Institute - California, Cytogenetics Laboratory - San Juan Capistrano, CA, USA• FISH-metaphase
  
Quest Diagnostics Nichols Institute - Virginia, Cytogenetics Laboratory - Chantilly, VA, USA• FISH-metaphase
  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Enzyme assay
  
Seattle Children's Hospital, Cytogenetics - Seattle, WA, USA• FISH-metaphase
  
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
  
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA• FISH-metaphase
• FISH-interphase
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India  
SUNY Upstate Medical University, Cytogenetics Laboratory - Syracuse, NY, USA• FISH-metaphase
  
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA• FISH-metaphase
  
UMass Memorial Medical Center, Cytogenetics Laboratory - Worcester, MA, USA• FISH-metaphase
  
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany  
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• FISH-metaphase
  
University of Colorado Anschutz Medical Campus, Colorado Genetics Laboratory - Denver, CO, USA• FISH-metaphase
• FISH-interphase
  
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA• FISH-metaphase
• FISH-interphase
  
University of Washington Medical Center, Cytogenetics Laboratory - Seattle, WA, USA• FISH-metaphase
  
Washington University School of Medicine - Department of Pathology and Immunology, Clinical Genomics Laboratory - Saint Louis, MO, USA• FISH-metaphase
• FISH-interphase
  

* 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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