SALSA MLPA Probemix P463 MRKH detects copy number variations in the TBX6, LHX1, HNF1B and TBX1 genes.
Contents: 45 MLPA probes, including 9 probes for TBX6, 5 probes for LHX1, 9 probes for HNF1B, and 12 probes for the TBX1 region (covering all exons of all genes listed).
Tissue: human genomic DNA.
Application: research on Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).
For research use only (RUO). Not for use in diagnostics.
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 new-born 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.
SALSA MLPA Probemix P463 MRKH is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.