SALSA MLPA Probemix P177 CASR detects copy number variations in the CASR gene.
Contents: 23 MLPA probes, including 14 probes for CASR (covering all exons).
Tissue: human genomic DNA.
Application: research on familial hypocalciuric hypercalcemia (FHH).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P177-B3 CASR is a research use only (RUO) assay for the detection of deletions or duplications in the CASR gene.
Familial Hypocalciuric Hypercalcemia (FHH) is characterized by high levels of calcium in the blood and low levels of calcium in the urine. FHH is primarily caused by inactivating mutations in the CASR gene, while activating mutations cause Automosomal Dominant Hypocalcemia that is characterized by low levels of calcium in the blood. The protein encoded by the CASR gene is a G protein-coupled receptor expressed in cells of the parathyroid gland and the kidney. This protein senses small changes in circulating calcium concentrations to help maintaining a stable calcium concentration.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1116.
SALSA MLPA Probemix P177 CASR 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.