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P443 KANSL1

SALSA MLPA Probemix P443 KANSL1 detects copy number variations in the KANSL1 gene.

Specifications

Contents: 32 MLPA probes, including 19 probes for the KANSL1 region.

Tissue: human genomic DNA.

Application: research on Koolen-de Vries syndrome.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P443 KANSL1 is a research use only (RUO) assay for the detection of deletions or duplications in the KANSL1 gene, which is associated with Koolen-de Vries syndrome.

Koolen-de Vries syndrome, also known as 17q21.31 deletion syndrome, is characterised by developmental delay, neonatal/childhood hypotonia, dysmorphisms, congenital malformations and behavioural features. Global psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with the 17q21.31 deletion syndrome function in the mild to moderate range of intellectual disability. Other findings include epilepsy, congenital heart defects, renal and urologic anomalies and cryptorchidism. KANSL1 (previously known as KIAA1267) is located in the 17q21.31 critically deleted region (Zollino et al. 2012). Please note, that 17q21.31 duplications affecting the 5′ coding exons of the KANSL1 gene have been described in healthy individuals by Steinberg et al. (2012). The authors found that almost 60% of Europeans carry at least one of three known duplications. In our quality testing we found comparable results.

The KANSL1 gene (15 exons) spans ~163 kb of genomic DNA and is located on chromosome 17q21.31, ~41 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK24676/.

Regulatory status

SALSA MLPA Probemix P443 KANSL1 is for research use only (RUO) in all territories.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P443-025R
SALSA MLPA Probemix P443 KANSL1 – 25 rxn
MLPA
€ 286.00
P443-050R
SALSA MLPA Probemix P443 KANSL1 – 50 rxn
MLPA
€ 560.00
P443-100R
SALSA MLPA Probemix P443 KANSL1 – 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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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