General information
The SALSA MLPA Probemix P067 PTCH1 is a research use only (RUO) assay for the detection of deletions or duplications in the PTCH1 gene, which is associated with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) and 9q22.3 microdeletion.

Gorlin syndrome/NBCCS is an autosomal dominant disease characterised by developmental abnormalities and a predisposition to cancers. Defects in the PTCH1 tumour suppressor gene (25 exons, spans ~66 kb of genomic DNA and is located on chromosome 9q22.32, ~95 Mb from the p-telomere) are the cause of Gorlin syndrome. Furthermore, the PTCH1 gene is the critical gene for 9q22.3 microdeletion, a disorder characterised by delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1151/ and https://www.ncbi.nlm.nih.gov/books/NBK61984/.

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 P067-B3 PTCH1 contains 33 MLPA probes with amplification products between 142 and 454 nucleotides (nt). This includes 23 probes for the PTCH1 gene, one probe for each exon with the exception of exons 1 and 9. In addition, ten 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.mrcholland.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.mrcholland.com.