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Paediatric Laboratory Medicine

Cancer Related Testing: Rhabdoid Tumour Predisposition Syndrome - SMARCB1 Sequencing

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 Sequencing

Alternate Name/ Synonym

  • RTPS

Gene Name

  • SMARCB1

Alternate Gene Name

INI1

Test Code

RHABD

Division

Molecular Genetics

Method

Sequencing

External Proficiency Testing

CAP

Turn Around Time

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

Protein

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

Disease/Condition

  • Rhabdoid Tumour Predisposition Syndrome

Specimen Type

Blood; extracted DNA is not accepted for Rhabdoid Tumour Predisposition Syndrome - SMARCB1 Deletion/Duplication Analysis.

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); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment  >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

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

Interpretation

Interpretation is provided in report