Laboratory Medicine Program

Rhabdoid Predisposition syndrome (SMARCA4, SMARCB1)

Clinical Decription:
Rhabdoid tumour predisposition syndrome (RTPS) is characterized by a markedly increased risk of developing rhabdoid tumors, which are rare and highly aggressive malignant tumors occurring predominantly in infants and children younger than age three years. Individuals with a personal and/or family history of rhabdoid tumours may be eligible for genetic testing. Please consult the Cancer Care Ontario document outlining eligibility for genetic testing for hereditary cancer (https://www.cancercareontario.ca/en/guidelines-advice/types-of-cancer/70161) and/or contact the lab for additional information. Note: This is a blood test for individuals with clinical features and/or a family history suggestive of RTPS. It is not a tumour test for somatic gene variants that provide diagnostic, prognostic or therapeutic information.

Method: Next-Generation Sequencing (NGS)

Component Tests Used: n/a

Reference Ranges Used:
Reference ranges for this test are not available online. However, they are included in all test results. For more information, please call us.

Specimen Type: peripheral blood (EDTA)
Volume: 5 mL (minimum: 2 mL)

Shipping: room temperature or 4C

Special Instructions: See requisitions for the full list of available testing and special instructions.

Testing Schedule(s): Please call

Turnaround Time: None

For more information, call 416.340.5227 or 1.866.865.5227