Disorders


 

PPT1-Related Neuronal Ceroid-Lipofuscinosis


 

OMIM

GeneLocusProtein
PPT11p32 

Laboratory Test Method Prenatal Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA  
Burc Molecular Genetics Laboratory - Istanbul, Turkey• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Enzyme assay
  
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Enzyme assay
  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
  
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Enzyme assay
  
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands  
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Targeted mutation analysis
• Enzyme assay
  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Enzyme assay
  
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Enzyme assay
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Targeted mutation analysis
  
University of Rochester Medical Center - Strong Memorial Hospital, Molecular Diagnosis - Rochester, NY, USA  

* 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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