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SALSA MLPA Probemix P445 KDM6A

Kabuki syndrome type 2 (KS2)

Region: KDM6A Xp11.3

General information
The SALSA MLPA Probemix P445 KDM6A is a research use only (RUO) assay for the detection of deletions or duplications in the KDM6A gene, which is associated with Kabuki syndrome.
Kabuki syndrome is a congenital mental retardation syndrome with additional features including postnatal dwarfism and distinctive facial features. Type 1 Kabuki syndrome (KS1) has been linked to mutations in the MLL2 gene (also known as KMT2D), while Type 2 Kabuki syndrome (KS2) has been associated with the X-chromosomal KDM6A gene, also known as UTX and KABUK2. KDM6A encodes a histone demethylase that interacts with MLL2.

The KDM6A gene (30 exons) spans ~240 kb of genomic DNA and is located on Xp11.3, about 45 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK62111/.

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 P445-A3 KDM6A contains 41 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 32 probes for the KDM6A gene, one probe for each exon (with the exception of exon 14) and two probes for exon 3, 4 and 19. In addition, nine reference probes are included that detect locations on the X-chromosome. 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P445-025R
SALSA MLPA Probemix P445 KDM6A – 25 rxn
€ 281.00
P445-050R
SALSA MLPA Probemix P445 KDM6A – 50 rxn
€ 550.00
P445-100R
SALSA MLPA Probemix P445 KDM6A – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM
€ 6037.00

Related Products

SALSA MLPA Probemix P389 MLL2

Contains probes for the MLL2 gene, involved in Kabuki syndrome type 1.

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