General Information: The SALSA MLPA probemix P046 TSC2 is a
research use only (RUO) assay for the detection of deletions or duplications in the human TSC2 gene, which is associated with tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormalities of the skin, brain, kidney, heart and lungs, seizures, and intellectual disability/developmental delay. Central nervous system tumours are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. The diagnosis of TSC is based on clinical findings and affects approximately 1 in 6.000 live births. TSC is inherited in an autosomal dominant manner and caused by mutations in either the
TSC1 or
TSC2 gene.
TSC2 mutations account for the majority (51%-82%) of all TSC patients as compared to
TSC1 mutations (~24%) (Sancak et al. 2005).
TSC2 mutations appear to be more common in sporadic TSC cases, while inherited cases result nearly equal from
TSC1 and
TSC2 mutations. Presently, more than 450 different disease-causing mutations are known for
TSC1 and more than 1300 are known for
TSC2. Truncating mutations are the most common mutation type in the
TSC1 (80%) and in the
TSC2 (65%) gene. Large genomic deletions are rare in
TSC1 (3%), but occur more frequently in the
TSC2 gene (6%) (Mayer et al. 2014).
More information is available on
https://www.ncbi.nlm.nih.gov/books/NBK1220/.
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content: The SALSA MLPA probemix P046-C1 TSC2 contains 52 probes with amplification products between 130 and 490 nt. This includes one probe for each of the 42 exons of the
TSC2 gene and one probe for the
PKD1 gene, downstream of
TSC2. In addition, 8 reference probes are included and detect 8 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (
www.mlpa.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mlpa.com.