General information
The SALSA MLPA Probemix P164 IDS is a research use only (RUO) assay for the detection of deletions or duplications in the IDS gene, which is associated with Hunter syndrome.

Defects in the Iduronate 2-sulfatase (IDS) gene on chromosome X are the cause of mucopolysaccharidosis type II (MPS II) or Hunter syndrome. Partial deletions or complete IDS gene deletions are estimated to be the cause of disease in 20% of all cases. Patients with full deletions or gross rearrangements of the IDS gene have in general a severe clinical presentation. However, most individuals with Hunter syndrome have point mutations in the IDS gene, none of which will be detected by the MLPA technique.

A pseudogene of IDS gene (IDSP1) is located at short distance of the real gene. A recombination event between the IDS gene and the IDSP1 pseudogene is the cause of disease in an estimated 13% of the Hunter syndrome patients. In most patients this recombination results in an inversion. It is probably not possible to detect most inversions with this MLPA assay. In view of the close distance and high similarity between the IDS and IDSP1 genes, gene conversion might occur and great care should be taken with interpretation of results obtained with this P164-B3 probemix.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1274/.

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 P164-B3 IDS contains 24 MLPA probes with amplification products between 136 and 373 nucleotides (nt). This includes eleven probes for the IDS gene, and also includes five flanking probes, with three probes targeting the upstream region of the IDS gene and two probes the downstream region of the IDSP1 pseudogene. In addition, eight 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 ten 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 two chromosome Y-specific fragments. 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.