HKPMDC
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Hereditary Cancer
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
Phone:+852.2986.1270
Fax:+852.2527.7028
E-mail:contact@hk-mpdc.com
27/F., Strand 50, No.50 Bonham Strand, Sheung Wan, Hong Kong
Opening Hours
Mondays to Fridays: 09:00-18:00
Saturdays: 09:00-16:00
Sundays and Public Holidays: Closed

For specimen pickup arrangements, please phone +852.2986.1270




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