Choose your country to see the products for your location

P059 Dystonia

SALSA MLPA Probemix P059 Dystonia detects copy number variations in the TOR1A, THAP1, ATP1A3 and PRKRA genes.

Specifications

Contents: 44 MLPA probes, including 5 probes for TOR1A, 3 probes for THAP1, 17 probes for ATP1A3, 9 probes for PRKRA and 1 probe for TOR1A c.907_909delGAG.

Tissue: human genomic DNA.

Application: research on dystonia.

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

Quick links

List Prices Documentation

Key related products

P099 GCH1-TH-SGCE-PRRT2

Contains probes for the GCH1, TH, SGCE and PRRT2 genes involved in Dystonia.

View all

General information

The SALSA MLPA Probemix P059 Dystonia is a research use only (RUO) assay for the detection of deletions or duplications in the TOR1A, THAP1, ATP1A3, and PRKRA genes, which are associated with Dystonia. This probemix can also be used to detect the presence of the c.907_909delGAG point mutation.

Dystonias comprise a heterogeneous group of neurological movement disorders, characterized by involuntary sustained muscle contractions affecting one or more sites of the body. Dystonia can have several causes, including genetic defects. Multiple genes in different forms of dystonia have been described so far. The TOR1A gene is associated with early-onset generalized dystonia (DYT1), whereas the THAP1 gene is associated with adolescent-onset segmental/generalized dystonia (DYT6), and the ATP1A3 (DYT12) and PRKRA (DYT16) genes are associated with rapid onset dystonia with parkinsonism and autosomal recessive dystonia with parkinsonism, respectively. This probemix can also detect the presence of the 3-bp deletion c.907_909delGAG involving the highly conserved GAGGAG sequence in exon 5 of the TOR1A gene.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1155/.

Regulatory status

SALSA MLPA Probemix P059 Dystonia is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD044 is an artificial DNA sample with a signal for all probes in the P059 Dystonia probemix. Inclusion of a reaction with SD044 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD044 is included with every order of the P059 Dystonia probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P059-025R
SALSA MLPA Probemix P059 Dystonia – 25 rxn
MLPA
€ 286.00
P059-050R
SALSA MLPA Probemix P059 Dystonia – 50 rxn
MLPA
€ 560.00

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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD044
SALSA Binning DNA SD044 – 6 rxn
MLPA
€ 24.15

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

This site uses cookies to help improve your online experience. Learn more
No, thank you accept

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location