Disorders


 

SPINK1-Related Hereditary Pancreatitis


Synonym(s): SPINK1-Related Calcific Pancreatitis, SPINK1-Related Chronic Pancreatitis

 

OMIM

GeneLocusProtein
SPINK15q32Pancreatic secretory trypsin inhibitor

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
  
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, 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
 
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada• Targeted mutation analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain• Targeted mutation analysis
 
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
St. Elisabeth Cancer Institute, Department of Clinical Genetics - Heydukova 2, Slovakia• Sequence analysis of the entire coding region
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Hospital Motol, Department of Biology and Medical Genetics - Prague, Czech Republic• Targeted mutation analysis
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
 
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic• Targeted mutation analysis
 
University Medical Center St Radboud, Laboratory of Gastroenterology and Hepatology - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University of Pittsburgh Medical Center, Division of Molecular Diagnostics - Pittsburgh, PA, USA• Targeted mutation 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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