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Test Name: | STK11 Gene Comprehensive Analysis |
Compliance: | LDT, ASR |
Test Description: | Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis and mucocutaneous pigmentation. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine but can also occur in the stomach and large bowel. Gastrointestinal polyps can result in chronic bleeding and anemia and cause recurrent obstruction and intussusception requiring repeated laparotomies and bowel resections.
The diagnosis of Peutz-Jeghers syndrome is based on clinical findings. In individuals with a clinical diagnosis of PJS, molecular genetic testing of the STK11 gene reveals disease-causing mutations in approximately 100% of individuals who have a positive family history and approximately 90% of individuals who have no family history of PJS. |
Methodology: | PCR-Sanger sequencing analysis and Deletion analysis of STK11 gene |
Gene Name: | STK11 |
Protein Name: | Serine/Threonine Kinase 11 |
Specimen Requirements: | 3-5 mL EDTA-blood |
Storage Condition: | Room Temperature |
Turn Around Time: | 14-21 working days |
OMIM: | http://www.ncbi.nlm.nih.gov/omim/?term=stk11 |
Genetic Home Reference: | http://ghr.nlm.nih.gov/gene/STK11 |
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Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 29 June, 2020.
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