Rhabdoid Tumour Predisposition Syndrome

Alternate test name

RTPS

Gene name / Alternate gene name

INI1

Protein

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Rhabdoid Tumour Predisposition Syndrome - requisition

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