General information
The SALSA MLPA
Probemix P120 PANK2/PLA2G6 is a
research use only (RUO) assay for the detection of deletions or duplications in the
PANK2 and
PLA2G6 genes, which are associated with neurodegeneration with brain iron accumulation (NBIA).
NBIA is a rare autosomal recessive condition characterised by abnormal iron deposition in the basal ganglia and neuroaxonal dystrophy causing extrapyramidal features, dementia, and ocular abnormalities. The
PANK2 gene encodes the pantothenate kinase enzyme, which is expressed at high levels in the brain. Pantothenate kinase is an essential regulatory enzyme in the biosynthesis of coenzyme A, which is important in intermediary and fatty acid metabolism. Mutations in
PANK2 are associated with NBIA type 1, Harp syndrome, and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Mutations in
PLA2G6, which encodes phospholipase A2, can cause NBIA type 2 that is characterised by abnormal iron accumulation.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK121988/.
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 P120-B2 PANK2/PLA2G6 contains 41 MLPA probes with amplification products between 130 and 436 nucleotides (nt). This includes 12 probes for
PANK2 and 18 probes for
PLA2G6. In addition, 11 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.