Disorders


 

CFTR-Related Hereditary Pancreatitis


Synonym(s): CFTR-Related Calcific Pancreatitis, CFTR-Related Chronic Pancreatitis

 

OMIM

GeneLocusProtein
CFTR7q31-q32Cystic fibrosis transmembrane conductance regulator

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany• Targeted mutation analysis
  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Inc - Cambridge, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Mutation scanning of the entire coding region
• Targeted mutation analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Targeted mutation analysis
  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of select exons
  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Mutation scanning of the entire coding region
• Targeted mutation analysis
  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  

* 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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