Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequence analysis

Alternative Names/Synonyms	HCT, Hereditary Cancer Testing, Germline, Predictive, Hereditary Cancer, SMAD4
Laboratory	Diagnostic Medical Genetics
Sub-section	Advanced Molecular Genetics
Specimen Type	Blood or DNA
Test Code	MPSGS

Clinical Significance (If applicable)

Please refer to Genetic Testing Program | Cancer Care Ontario
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)

EDTA lavender top for blood
Collection Containers – Tube Types
or
2 mL screw top tube for DNA

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