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Paediatric Laboratory Medicine

Cancer Related Testing: Rhabdoid Tumour Predisposition Syndrome - SMARCB1 Deletion/Duplication Analysis

Clinical Significance

Rhabdoid tumour predisposition syndrome 1 (RTPS-1) is a cancer syndrome that predisposes an individual to rhabdoid tumours. These tumours are referred to as atypical teratoid/rhabdoid tumours (AT/RT) when arising in the central nervous system, and as malignant rhabdoid tumours (MRTs) if found in other sites (i.e. renal, liver, lung, skin, heart). Most of these tumours are characterized by loss of function of the SMARCB1 gene. Germline mutations in SMARCB1 can predispose an individual to developing these tumours. Rhabdoid tumours are highly malignant and usually occur in children less than 2 years of age, and may present in multiple sites. Schwannomatosis is a genetic condition characterized by multiple schwannomas. Schwannomas can arise wherever Schwann cells occur, in the spinal cord and along peripheral and cranial nerves. The most common presentation of non-vestibular nerve schwannomas is painful lumps along the skin and/or neurological deficits.

Test Name

Cancer Related Testing: Rhabdoid Tumour Predisposition Syndrome - SMARCB1 Deletion/Duplication Analysis

Alternate Name/ Synonym

  • RTPS

Gene Name


Alternate Gene Name


Test Code



Molecular Genetics


Deletion/duplication analysis via MLPA

External Proficiency Testing


Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)


SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1


  • Rhabdoid Tumour Predisposition Syndrome

Specimen Type

Blood; we will not accept extracted DNA for this test.

If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate)


Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment  >48 hours, ship on ice.

Approval is not required

CPT Codes


Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212


Interpretation is provided in report