Disorders

SPINK1-Related Hereditary Pancreatitis

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

Gene	Locus	Protein
SPINK1	5q32	Pancreatic secretory trypsin inhibitor

Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India	• 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	• Targeted mutation analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada	• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain	• Targeted mutation analysis
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of select exons
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
St. Elisabeth Cancer Institute, Department of Clinical Genetics - Heydukova 2, Slovakia
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
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
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.