Test ID: LYNCH    
Lynch Syndrome Panel, Varies

Establishing a diagnosis of Lynch syndrome

Identification of familial MLH1, MSH2, MSH6, PMS2, or EPCAM mutations to allow for predictive testing in family members

This test includes next-generation sequencing, Sanger sequencing, array comparative genomic hybridization, and multiplex ligation-dependent probe amplification to evaluate for mutations and large deletions/duplications in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Sanger sequencing may also be performed to confirm detected variants.

Prior Authorization is available for this assay; see Special Instructions.

See Lynch Syndrome Testing Algorithm in Special Instructions.

• Molecular Genetics: Inherited Cancer Syndromes Patient Information
• Informed Consent for Genetic Testing
• Lynch Syndrome Panel (LYNCH) Prior Authorization Ordering Instructions
• Lynch Syndrome Testing Algorithm
• Informed Consent for Genetic Testing (Spanish)

Custom Sequence Capture and Targeted Next Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH) or Multiplex Ligation-Dependent Probe Amplification (MLPA)