General information
The SALSA MLPA Probemix P203 PKLR is a
research use only (RUO) assay for the detection of deletions or duplications in the
PKLR gene, which is associated with Pyruvate kinase (PK) deficiency.
PK deficiency is a common cause of hereditary non-spherocytic haemolytic anaemia. It is an autosomal recessive disorder commonly caused by mutations in the gene encoding erythrocyte and liver-type pyruvate kinase (
PKLR), a key enzyme of the glycolytic pathway.
The clinical symptoms of the disease can be variable, ranging from chronic non-spherocytic haemolytic anaemia to neonatal jaundice requiring erythrocyte transfusions.
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 P203-B2 PKLR contains 21 MLPA probes with amplification products between 177 and 409 nucleotides (nt). This includes twelve probes for the
PKLR gene, one probe for each exon and two probes for exon 1.
In addition, nine 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.