Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies
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
This test does not include CTNNA1, another gene associated with hereditary diffuse gastric cancer. For a comprehensive panel that includes the CDH1 gene, consider ordering CRCGP or BRGYP tests. Due to potential DNA interference, patients who have undergone a hematopoietic stem cell transplant require specific consultation. New York clients must submit informed consent for genetic testing. Specimens are preferred to be received within 24-30 days, depending on type, and maternal cell contamination studies are required for certain specimen types.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 94240-9
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send in original tube. Whole blood from umbilical cord is acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |