SALSA MLPA Probemix P227 SERPINC1 detects copy number variations in the SERPINC1 gene.
Contents: 17 MLPA probes, including 7 probes for SERPINC1 (covering all exons).
Tissue: human genomic DNA.
Application: research on antithrombin deficiency.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P227 SERPINC1 is a research use only (RUO) assay for the detection of deletions or duplications in the SERPINC1 gene, which is associated with antithrombin deficiency.
Antithrombin deficiency is a rare hereditary disorder that generally comes to light when a patient suffers from recurrent venous thrombosis and pulmonary embolism. In renal failure (especially nephrotic syndrome) antithrombin is lost in the urine. This leads to a higher activity of Factor II and Factor X and an increased tendency to thrombosis. Antithrombin (III) deficiency is mainly caused by a defect in the SERPINC1 gene.
The SERPINC1 gene (7 exons) spans ~13.5 kb of genomic DNA, and is located on chromosome 1q25.1, ~173 Mb from the p-telomere.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK284694/.
SALSA MLPA Probemix P227 SERPINC1 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.