Description
Bidirectional sequecing of the coding and splice sites of exons 1-9. Complemented by MLPA using kit 258-SMARCB.
Also known as
INI1
Request a test
When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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
Specialist Integrated Haematology and Malignancy Diagnostic Service- Acquired Genomics
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
Cost
Upon request
Call in advance?
Please call in advance to discuss requirements