General information
The SALSA MLPA Probemix P463 MRKH is a research use only (RUO) assay for the detection of deletions or duplications in the TBX6, LHX1, HNF1B, and TBX1 genes, which are associated with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).

MRKH is characterised by normal physical development of the secondary sexual characteristics and a normal female 46,XX karyotype but with complete aplasia of the uterus, cervix, and superior parts of vagina leading to failure to menstruate and infertility. This syndrome is distinguishable in type I with normally developed fallopian tubes, ovaries, and urinary tract, and type II with fallopian or ovarian abnormalities and additional malformations which involve the urinary tract and spine. MRKH has an incidence of approximately 1 in 5,000 newborn girls. Defects in the TBX6, LHX1, HNF1B, and TBX1 genes on chromosomes 16, 17, and 22 are some of the causes for the development of MRKH syndrome.

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 P463-A2 MRKH contains 45 MLPA probes with amplification products between 121 and 498 nucleotides (nt). This includes nine probes for the TBX6 gene, one probe for each exon, five probes for the LHX1 gene, one probe for each exon, nine probes for the HNF1B gene, one probe for each exon, and 12 probes for TBX1 gene, one probe for each exon of the gene, two probes for exon 9, and additional two probes downstream of exon 9 targeting exons present in other transcript variants. In addition, ten 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.