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P445 KDM6A

SALSA MLPA Probemix P445 KDM6A detects copy number variations in the KDM6A gene.

Specifications

Contents: 41 MLPA probes, including 32 probes for KDM6A.

Tissue: human genomic DNA.

Application: research on Kabuki syndrome type 2 (KS2).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P389 MLL2

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

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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 rare congenital disorder characterised by intellectual disability, growth delays 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/.

Regulatory status

SALSA MLPA Probemix P445 KDM6A is for research use only (RUO) in all territories.

Product documentation

Version A3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P445-025R
SALSA MLPA Probemix P445 KDM6A – 25 rxn
MLPA
€ 286.00
P445-050R
SALSA MLPA Probemix P445 KDM6A – 50 rxn
MLPA
€ 560.00
P445-100R
SALSA MLPA Probemix P445 KDM6A – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

The commercially available positive samples below can be used with the current (A3) version of this product.

  • Coriell NA10636 (f): Heterozygous duplication affecting the probes for KDM6A.

Resources

General MLPA resources

MLPA education

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