Rhabdoid Predisposition Syndrome

HCT, Hereditary Cancer Testing, Germline, Predictive, Hereditary Cancer, SMARCA4, SMARCB1, MLPA, SMARCB1 Sequence Analysis
Diagnostic Medical Genetics
Advanced Molecular Diagnostics
Blood or DNA
RHPS1

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
Sequencing + CNV
STAT, Routine; Monday to Friday
4 weeks
6-8 weeks
molecularlab.MSH@sinaihealth.ca
Yes if not associated with a Genetic Counsellor
SMARCA4, SMARCB1
Samples received and processed Monday to Friday 8:30 am - 4:30 pm
Yes
Hereditary Cancer; Indications outlined by Ontario Health (formerly Cancer Care Ontario); see link in Clinical Significance section