SMARCB1 mutation detection


Bidirectional sequecing of the coding and splice sites of exons 1-9. Complemented by MLPA using kit 258-SMARCB.

Also known as


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Additional information

Germline and sporadic mutations in SMARCB1/INI1 predispose patients to rhabdoid tumours. These are highly malignant, particularly aggressive tumours of infancy and early childhood, approximately 35% have been demonstrated to be of germline orign. Testing for mutations is by direct sequencing and comprise mainly missiense and frameshift mutatios which result in stop codons. Loss of heterozygoisty is detected using MLPA (see separate entry)

Sending address

Paediatric Malignancy Unit Great Ormond Street Hospital for Sick Children Level 2, Camelia Botnar Laboratories Great Ormond Street London WC1N 3JH

Laboratory service

Paediatric Malignancy Unit

Sample requirements

Fresh, frozen or FFPE tissue. If sending FFPE rolled tissue sections please send the equivalent of 80 uM of tissue.

Reference range

Not applicable

Turnaround time

40 working days

Disease / group

Rhabdoid tumours


Upon request

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Paediatric Malignancy Unit

The Paediatric Malignancy Unit is a unit providing a wide range of molecular genetic and cytogenetic diagnostic tests.

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