Download Townes-Brocks Syndrome - Nottingham University Hospitals NHS

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