Invitae Hereditary Diffuse Gastric Cancer Syndrome Panel
Use
This test analyzes the CDH1 and CTNNA1 genes, which are associated with hereditary diffuse gastric cancer syndrome (HDGC). Identification of a disease-causing variant would guide diagnosis and treatment decisions for at-risk relatives. It may confirm a diagnosis and help guide treatment and management decisions for patients with an increased risk of diffuse gastric cancer and lobular breast cancer. Genetic testing can aid in confirming the cause of the condition and provide information on the risk for related disorders.
Special Instructions
Genetic testing of these genes may help guide treatment and management decisions. This test is specifically designed for heritable germline mutations and should not be used for somatic mutations in tumor tissue.
Limitations
The assay achieves over 99% analytical sensitivity and specificity for SNVs, insertions, deletions less than 15bp, and exon-level changes. However, single exon copy number events may not be analyzed in rare cases due to technical issues. Variants like inversions, gene conversions, or translocations may not be detected. Promoter and non-coding regions are not routinely covered except for select non-coding variants. Details may not be fully resolved for mosaicism, phasing, or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)