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P183 EDA-EDAR-EDARADD

SALSA MLPA Probemix P183 EDA-EDAR-EDARADD detects copy number variations in the EDA, EDAR, EDARADD and WNT10A genes.

Specifications

Contents: 48 MLPA probes, including 11 probes for EDA, 12 probes for EDAR, 9 probes for EDARADD, and 4 probes for WNT10A (covering all exons of all genes listed).

Tissue: human genomic DNA.

Application: research on hypohidrotic ectodermal dysplasia (HED).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P183 EDA-EDAR-EDARADD is a research use only (RUO) assay for the detection of deletions or duplications in the genes EDA, EDAR, EDARADD and WNT10A, which are associated with hypohidrotic ectodermal dysplasia (HED).

X-linked HED (XLHED) is the most common form of ectodermal dysplasia (ED) in humans, with an incidence of approximately 1 per 100,000 births. This syndrome is characterised by absence or aberrant development of exocrine sweat glands, leading to heat intolerance with excessively dry skin, abnormal spiky or absent teeth and sparse hair on the scalp and body. These structures are affected together or in different combinations. It has been shown that mutations of the X-linked EDA gene are the major causative factor for this disorder. EDA encodes the ectodysplasin A (EDA) protein, which has been recognised as a member of the tumour necrosis factor (TNF) superfamily. EDAR encodes the ectodysplasin A receptor. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. EDARADD encodes the EDAR-associated death domain protein which is also involved in ectodermal dysplasia. WNT10A belongs to the WNT gene family, which encodes secreted signalling proteins.

The EDA (ED1) gene (8 exons) spans ~423 kb of genomic DNA and is located on Xq13.1, 69 Mb from the p-telomere. The EDAR gene (12 exons) spans ~95 kb of genomic DNA and is located on 2q13, 109 Mb from the p-telomere. The EDARADD gene (6 exons) spans ~91 kb of genomic DNA and is located on 1q43, 235 Mb from the p-telomere. The WNT10A gene (4 exons) spans ~13 kb of genomic DNA and is located on 2q35, 219 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1112/.

Regulatory status

SALSA MLPA Probemix P183 EDA-EDAR-EDARADD is for research use only (RUO) in all territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P183-025R
SALSA MLPA Probemix P183 EDA-EDAR-EDARADD – 25 rxn
MLPA
€ 286.00
P183-050R
SALSA MLPA Probemix P183 EDA-EDAR-EDARADD – 50 rxn
MLPA
€ 560.00
P183-100R
SALSA MLPA Probemix P183 EDA-EDAR-EDARADD – 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 (C1) version of this product.

Chromosome 1

Chromosome 2

  • Coriell NA01229: Heterozygous duplication affecting the probes for WNT10A.
  • Coriell NA10401: Heterozygous duplication affecting the probes for EDAR and WNT10A.
  • Coriell NA10918: Heterozygous deletion affecting the probes for WNT10A.

Resources

General MLPA resources

MLPA education

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