General information: The SALSA MLPA
Probemix P333 EP300 is a
research use only (RUO) assay for the detection of deletions or duplications in the
EP300 gene, which is associated with Rubinstein-Taybi syndrome (RSTS).
RSTS is characterised by growth retardation, distinctive facial dysmorphisms, skeletal abnormalities such as broad and often angulated thumbs, and intellectual disability. RSTS is caused by mutations in two genes:
EP300, encoding E1A-associated protein p300, and
CREBBP, encoding a CREB-binding protein. Approximately, 3-8% of RSTS individuals carry heterozygous mutations in
EP300, while pathogenic variants in
CREBBP are identified in approximately 50-60% of RSTS patients.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1526/.
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 P333-A4 EP300 contains 41 MLPA probes with amplification products between 136 and 463 nucleotides (nt). This includes 31 probes for the
EP300 gene, one probe for each exon of the gene, and one probe for the
CREBBP gene. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mlpa.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and 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.