General information
The SALSA MLPA Probemix P464 INSR is a research use only (RUO) assay for the detection of deletions or duplications in the INSR gene, which is associated with INSR-related severe syndromic insulin resistance.

INSR-related severe syndromic insulin resistance comprises a spectrum of milder to severe phenotypes, ranging from Donohue syndrome (most severe) to Rabson-Mendenhall syndrome (milder), based on the original clinical descriptions. Donohue syndrome is characterized by severe insulin resistance, severe growth failure, hypotonia, developmental delay, characteristic facial features and enlarged organs. Death usually occurs before the age of one. Rabson-Mendenhall syndrome is characterized by severe insulin resistance, with growth delay and intellectual disability varying from case to case. Facial features can be milder compared to Donohue syndrome. Life expectancy varies but death usually occurs in the second decade, most commonly because of complications of hyperglycemia. These disorders are extremely rare, with a prevalence estimated at under 1:1,000,000. INSR encodes the insulin receptor protein. This protein plays an important role in the insulin signalling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein.

The INSR gene (22 exons) spans ~182 kb of genomic DNA and is located on chromosome 19p13.2, ~7 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK476444/.

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 P464-A1 INSR contains 39 MLPA probes with amplification products between 136 and 412 nucleotides (nt). This includes 30 probes for the INSR gene. 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.