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

* 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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