Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequence analysis

HCT, Hereditary Cancer Testing, Germline, Predictive, Hereditary Cancer, SMAD4
Diagnostic Medical Genetics
Advanced Molecular Diagnostics
Blood or DNA
MPSGS

Supporting Documents

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