General information
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/.

Probemix content
The SALSA MLPA Probemix P227-B4 SERPINC1 contains 17 MLPA probes with amplification products between 136 and 328 nucleotides (nt). This includes one probe for each exon of the SERPINC1 gene. In addition, 10 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 (see table below). 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.