Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequence analysis
| HCT, Hereditary Cancer Testing, Germline, Predictive, Hereditary Cancer, SMAD4 | |
| Diagnostic Medical Genetics | |
| Advanced Molecular Diagnostics | |
| Blood or DNA | |
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MPSGS
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Supporting Documents
Please refer to Genetic Testing Program | Cancer Care Ontario
https://www.cancercareontario.ca/en/guidelines-advice/treatment-modality/pathology-laboratory-testing/genetic-testing-resources
https://www.cancercareontario.ca/en/guidelines-advice/treatment-modality/pathology-laboratory-testing/genetic-testing-resources
Peripheral blood or DNA (please specify source if DNA)
2 tubes x 4 mL of blood
5 ug of DNA in TRIS-HCl or water only (no EDTA)
5 ug of DNA in TRIS-HCl or water only (no EDTA)
Collect and ship samples at room temperature on the same day. Samples should be received within 24 to 48 hours.
Room Temperature: 7 days
Next Generation Sequencing
STAT, Routine; Monday to Friday
4 weeks
6-8 weeks
molecularlab.MSH@sinaihealth.ca
On requisition choose 'Custom Hereditary Cancer Gene Sequencing' and specify the gene to be tested
Yes if not associated with a Genetic Counsellor
SMAD4
Samples received and processed Monday to Friday 8:30 am - 4:30 pm
Yes