Tuberous Sclerosis (TSC) is an autosomal dominant disorder caused by genetic variation in either the TSC1 or TSC2 gene. It has an incidence of roughly 1 in 6000 newborns, and most of the patients are sporadic cases with an absence of family history. TSC causes non-malignant tumour growth in multiple organs, including skin, central nervous system, and other vital organs, leading to clinical manifestations such as epilepsy, behavioural problems, skin abnormalities and lung and kidney disease.
Approximately 75% of TSC cases are linked to the TSC2 gene on 16p13.3, the remaining are linked to the TSC1 gene on 9q34. The majority of variations found in these genes are nonsense, missense, frameshift, or splice site mutations, while less than 10% of the TSC cases are due to copy number variation in TSC1 or TSC2. All known mutations are thought to result in little to no protein activity.
The TSC1 gene (23 exons) spans ~53 kb of genomic DNA and is located on chromosome 9q34.13. The P124-C2 probemix contains one probe for each exon of the TSC1 gene. In addition, 9 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.
This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.
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CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.