Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies

Clinical Use

Use

This test is useful for evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome. It aids in establishing a diagnosis of HDGC syndrome, allowing for targeted cancer surveillance based on associated risks. The test also helps in identifying genetic variants associated with an increased risk for HDGC syndrome, enabling predictive testing of at-risk family members.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all genomic variants, with certain regions being less reliably covered. False-negative or positive results are possible, and some regions may not be evaluated due to technical limitations such as homology or high GC content. The test detects up to 95% deletions and insertions under 75bp; however, larger or mosaic variants may be missed. Interpretation assumes no recent blood transfusion or stem cell transplant involvement, as these can skew results. Not all deletion/duplication events extending beyond target panels are reported.

Test Details

New York Approved