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Rhabdoid Tumour Predisposition Syndrome

Alternate test name


Gene name / Alternate gene name



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

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment

Deletion/duplication analysis via MLPA; Sequencing

Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA

Extracted DNA will not be accepted for the MLPA portion of this test.


Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

DNA extracted at an external lab is not accepted for MLPA testing.

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment  >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and 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.

See related information sheet:  Rhabdoid tumour predisposition syndrome

Disease condition

Rhabdoid Tumour Predisposition Syndrome

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