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East Midlands Regional Molecular Genetics Laboratory City Hospital campus Hucknall Road Nottingham NG5 1PB Tel: 0115 9691169 ext. 55207 [email protected] www.nuh.nhs.uk Service information: Townes-Brocks Syndrome (TBS) Gene/Locus: SALL1 (16q12.1) OMIM: #107480 Alternative Name: Renal-Ear-Anal-Radial (REAR) Syndrome Referrals: Clinical Geneticists, Paediatricians, Other relevant specialities Testing: Diagnostic testing offered in clinically affected patients Target Reporting Times: • Diagnostic 40 working days £300 • Known mutation 10 working days £100 • Urgent testing* 3 working days Please contact laboratory *Please contact the laboratory if urgent testing is required e.g. prenatal diagnosis, diagnostic testing when pregnancy involved Test Details: • Mutation screening for SALL1 mutations: includes bidirectional Sanger sequencing of the coding region and the adjacent splice donor/acceptor sites of the SALL1 gene and MLPA (multiplex ligationdependent probe amplification) analysis to detect exonic deletions/duplications of the SALL1, SALL4 and TBX5 genes (MRC Holland P180 kit). • Testing for known mutations in individuals with a family history of SALL1 mutations by Sanger sequencing or MLPA, as appropriate. Service Details: The combination of the above techniques is predicted to identify point mutations or deletions in approximately 70% of patients with the classic triad of malformations (anorectal, thumb and ear malformations) characteristic of Townes-Brocks syndrome (Kolhase et al. 1999; Am.J.Hum.Genet 64:435-445). If a patient has clinical symptoms that overlap with Duane-Radial-Ray syndrome, SALL4 gene mutation analysis can be performed. In a few individuals, complete overlap exists between Duane-Radial-Ray syndrome and Townes-Brocks syndrome. SALL4 mutation screening is offered by the Nottingham laboratory for £300.00. Sample Requirements: • • • • EDTA blood sample (1-4 ml), labelled with patient’s full name, date of birth and NHS number or genomic DNA (50µl at ≥100ng/µl). Samples should be accompanied by a fully completed referral card which should include the patient’s full name, date of birth and NHS number. Please also include details of the test, relevant clinical details and full details of the referring clinician and centre. A maternal sample is required in cases of prenatal diagnosis and in cases where DNA has been extracted from a cord blood sample. Consent: Please note that in submitting a sample, it is the responsibility of the clinician to ensure that consent has been taken i) for testing, ii) for storage, and iii) for the use of this sample and the information generated to be shared with the patient’s relatives and their health professionals. Following testing, a sample of the patient’s DNA may also be used anonymously to validate new tests and for internal quality control purposes. Date modified – Oct 2011. If printed, this document is only valid on the day of printing