SALSA MLPA P340 EHMT1 probemix

Application: 9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.
Region: EHMT1
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Item no. Description Price
P340-025R SALSA MLPA P340 EHMT1 probemix – 25 rxn € 243
P340-050R SALSA MLPA P340 EHMT1 probemix – 50 rxn € 486
P340-100R SALSA MLPA P340 EHMT1 probemix – 100 rxn € 972
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 300
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 300
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1380
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1380
To perform MLPA, both a probemix and reagent kit are needed.

Description
General Information: The SALSA MLPA Probemix P340 EHMT1 is a research use only (RUO) assay for the detection of deletions or duplications in the EHMT1 gene. The EHMT1 gene (27 exons) spans ~217 kb of genomic DNA and is located on chromosome 9q34.3, ~139 Mb from the p-telomere.

Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK47079/.

Probemix content: The SALSA MLPA Probemix P340-B1 EHMT1 contains 42 MLPA probes with amplification products between 130 and 494 nt. This P340-B1 probemix contains one probe for each exon of the EHMT1 gene, except for exon 1. Two probes are present for exons 2, 10 and 19. This probemix furthermore contains two probes for ARRDC1-AS1 (previous name: C9orf37) which is located ~1 kb upstream of EHMT1 exon 1, and one probe for the CACNA1B gene, which is located ~50 kb downstream of EHMT1. In addition, nine reference probes are included in this probemix, detecting nine different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.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, one chromosome X and one chromosome Y-specific fragment (see table below). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Related Products
SALSA MLPA P286 Human Telomere-11 probemix: Contains additional probes for the 9q subtelomeric region.

Product History
Current version: B1, sold since: 2018-07-02.

Version B1: One EHMT1 probe for exon 26 has been removed. Three reference probes have been replaced and two have been removed. Several probe lengths have been adjusted.
Version A2: Compared to version A1, the 88 and 96 nt DNA denaturation fragments replaced by new QDX2 control fragments
Version A1: Changes not specified

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