Choose your country to see the products for your location

P316 Recessive Ataxias

SALSA MLPA Probemix P316 Recessive Ataxias detects copy number variations in the APTX, SETX, and FXN genes.

Specifications

Contents: 50 MLPA probes, including 10 probes for APTX (covering all exons), 26 probes for SETX (covering all exons) and 5 probes for FXN.

Tissue: human genomic DNA.

Application: research on ataxia with oculomotor apraxia type 1 (AOA1), type 2 (AOA2), and Friedreich ataxia (FRDA).

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

Quick links

List Prices Documentation

Key related products

P041 ATM-1

Contains probes for the ATM gene for the diagnosis of Ataxia-Telangiectasia.

P042 ATM-2

Contains probes for the ATM gene for the diagnosis of Ataxia-Telangiectasia.

View all

General information

The SALSA MLPA Probemix P316 Recessive Ataxias is a research use only (RUO) assay for the detection of deletions or duplications in the APTX, SETX, and FXN genes, which are associated with Ataxia with oculomotor apraxia type 1 (AOA1), type 2 (AOA2), and Friedreich ataxia (FRDA).

AOA1 is an autosomal recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. AOA1 has been associated with mutations in the APTX gene. The APTX gene (9 exons) spans ~29 kb of genomic DNA and is located on chromosome 9p13.3, ~33 Mb from the p-telomere. APTX encodes the aprataxin protein, which is involved in single-stranded DNA repair.

AOA2 usually has its onset between the ages of three and 30 years and is characterised by cerebellar atrophy, axonal sensorimotor neuropathy, and oculomotor apraxia. Mutations in the SETX gene have been associated with AOA2 and amyotrophic lateral sclerosis type 4 (ALS4). SETX encodes the senataxin protein, which is suggested to be involved in DNA and RNA processing. The SETX gene (26 exons) spans ~94 kb of genomic DNA and is located on chromosome 9q34.13, ~132 Mb from the p-telomere.

FRDA is characterized by slowly progressive ataxia with mean onset between 10 and 15 years of age. FRDA is caused by mutations in the FXN gene, leading to reduced expression of the mitochondrial protein frataxin. This deficiency causes degeneration of nervous tissue in the spinal cord, which leads to ataxia. The FXN gene (5 exons) spans ~39 kb of genomic DNA and is located on chromosome 9q21.11, ~69 Mb from the p-telomere. Please note that the major cause of Friedreich's ataxia is an expansion of an intronic trinucleotide repeat, which cannot be detected with this P316-B4 Recessive Ataxias probemix.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1456/, https://www.ncbi.nlm.nih.gov/books/NBK1154/, and https://www.ncbi.nlm.nih.gov/books/NBK1281/.

Regulatory status

SALSA MLPA Probemix P316 Recessive Ataxias is for research use only (RUO) in all territories.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P316-025R
SALSA MLPA Probemix P316 Recessive Ataxias – 25 rxn
MLPA
€ 286.00
P316-050R
SALSA MLPA Probemix P316 Recessive Ataxias – 50 rxn
MLPA
€ 560.00
P316-100R
SALSA MLPA Probemix P316 Recessive Ataxias – 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

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