ARUP^® Laboratories &ndash National Reference Laboratory

GASTROINTESTINAL PATHOLOGY

The focus of gastrointestinal pathology is the molecular diagnostics of gastrointestinal tumors and inherited colorectal cancer, including KRAS and BRAF mutational testing in colorectal cancer for determination of therapeutic response to EGFR inhibitors. For the workup of Lynch syndrome (hereditary non-polyposis colorectal cancer or HNPCC), tests include microsatellite instability testing (by PCR and/or IHC), BRAF mutational testing, and detection of MLH1 methylation. Finally, germline analysis of MLH1, MSH2, MSH6, and PMS2 is provided.

The studies available for determination of therapeutic response to EGFR inhibitors are:

• KRAS mutation detection
• KRAS mutation detection with BRAF reflex
• BRAF V600E mutation detection by PCR

The studies available for the workup of Lynch syndrome (hereditary non-polyposis colorectal cancer or HNPCC) include:

• Microsatellite instability/HNPCC by immunohistochemical stain
• HNPCC/Lynch syndrome, microsatellite instability by PCR
• Microsatellite instability by IHC with reflex to BRAF V600E Mutation & MLH1 promoter methylation
• BRAF V600E mutation with reflex to MLH1 promoter methylation, paraffinized tissue

The studies available for germline diagnostic testing of Lynch syndrome are:

• MLH1 sequencing and deletion/duplication
• MSH2 sequencing and deletion/duplication
• MSH6 sequencing and deletion/duplication
• PMS2 sequencing and deletion/duplication
• Familial mutation, targeted sequencing

The study available for Gastrointestinal Stromal Tumor diagnostic testing is:

• Gastrointestinal stromal tumor mutation

Additional information may be found on ARUP Consult^®:

• Colorectal cancer
• Gastrointestinal stromal tumors
• HHT
• Lynch syndrome
• MEN
• Tumor markers
• Alport syndrome

• test information
• Ordering and Submission Details