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P013 ATRX

SALSA MLPA Probemix P013 ATRX detects copy number variations in the ATRX gene.

Specifications

Contents: 46 MLPA probes, including 37 for ATRX (covering all exons).

Tissue: human genomic DNA.

Application: research on alpha-thalassemia X-linked intellectual disability (ATRX) syndrome.

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

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List Prices Documentation

Key related products

P106 X-linked ID

Contains probes for genes involved in X-linked mental retardation.

P140 HBA

Contains probes for the 16p HBA region, involved in alpha-thalassemia.

View all

General information

The SALSA MLPA Probemix P013 ATRX is a research use only (RUO) assay for the detection of deletions or duplications in the ATRX gene, which is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome.

ATRX syndrome is characterized by distinctive craniofacial features - like microcephaly, telecanthus, widely spaced eyes, short nose -, genital anomalies, severe developmental delays, intellectual disability, hypotonia, skeletal anomalies, and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex. ATRX syndrome is inherited in an X-linked manner. The mother may be a carrier or the affected individual may have a de novo mutation. Female carriers have a 50% chance in each pregnancy of transmitting the ATRX pathogenic variant.

The ATRX gene encodes for the transcriptional regulator ATRX protein. The zinc finger domain functions as a transcription factor and the helicase domains function in the transcription process opening double-stranded DNA. In combination with other chromatin-associated proteins, the ATRX protein appears to play a role in chromatin remodelling, possibly silencing gene expression during development. The mutated ATRX protein downregulates the α-globin locus, resulting in thalassemia, and probably suppresses expression of other genes by disturbances in transcription and chromatin structure, leading to malformations and intellectual disability.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1449/.

Regulatory status

SALSA MLPA Probemix P013 ATRX 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
P013-025R
SALSA MLPA Probemix P013 ATRX – 25 rxn
MLPA
€ 296.00
P013-050R
SALSA MLPA Probemix P013 ATRX – 50 rxn
MLPA
€ 580.00
P013-100R
SALSA MLPA Probemix P013 ATRX – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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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