Choose your country to see the products for your location

P025 Canavan disease

SALSA MLPA Probemix P025 Canavan disease detects copy number variation in the ASPA gene.

Specifications

Contents: 21 MLPA probes, including 7 probes for ASPA.

Tissue: human genomic DNA.

Application: research on Canavan disease.

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

Quick links

List Prices Documentation

General information

The SALSA MLPA Probemix P025 Canavan disease is a research use only (RUO) assay for the detection of deletions or duplications in the ASPA gene, which is associated with Canavan disease.

Canavan disease is an autosomal recessive disorder, characterised by a spongy degeneration of the central nervous system, resulting in blindness, megalocephaly, severe mental defects, atonia of neck muscles, and hyperextension of legs and flexion of arms. Although average life expectancy of Canavan patients is only 18 months, several congenital, infantile, and late-onset forms of Canavan disease have been reported.

Canavan disease is caused by defects in the ASPA gene on chromosome 17p13.3, coding for aspartoacylase. Diagnosis can be performed by measuring aspartoacylase activity in cultured fibroblasts. DNA methods detecting the gene defect are desirable for prenatal diagnosis as aspartoacylase activity is low or undetectable in direct or cultured normal chorionic villi and in normal cultured amniocytes. Although Canavan disease occurs in people from all ethnic backgrounds, it is most common in people from Ashkenazi Jewish heritage. In this population, patients mostly carry one or more of the three common point mutations, E285A, Y231X, and A305E. In other populations, a variety of mutations have been found, including deletions of one or more ASPA exons.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1234.

Regulatory status

SALSA MLPA Probemix P025 Canavan disease is for research use only (RUO) in all territories.

Product documentation

Version A5

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P025-025R
SALSA MLPA Probemix P025 Canavan disease – 25 rxn
MLPA
€ 286.00
P025-050R
SALSA MLPA Probemix P025 Canavan disease – 50 rxn
MLPA
€ 560.00
P025-100R
SALSA MLPA Probemix P025 Canavan disease – 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