SALSA MLPA Probemix P067 PTCH1 detects copy number variations in the PTCH1 gene.
Contents: 33 MLPA probes, including 23 probes for PTCH1.
Tissue: human genomic DNA.
Application: research on Gorlin syndrome and 9q22.3 microdeletion.
For research use only (RUO). Not for use in diagnostics.
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/.
SALSA MLPA Probemix P067 PTCH1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.