Choose your country to see the products for your location

P436 ANO5

SALSA MLPA Probemix ANO5 detects copy number variations in the ANO5 gene.

Specifications

Contents: 37 MLPA probes, including 27 probes for ANO5 (covering all exons) of which 1 detects the wild-type sequence of the c.191dupA mutation, and a probe for ANO5 c.191dupA.

Tissue: human genomic DNA.

Application: research on limb girdle muscular dystrophy type 2L (LGMD2L; anoctaminopathy).

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

Quick links

List Prices Documentation

Key related products

P048 LMNA/MYOT/ZMPSTE24

Contains probes for the MYOT gene, involved in Limb Girdle Muscular Dystrophy 1A (LGMD1A).

P116 SGC

Contains probes for the SGCA, SGCB, SGCD, SGCG and FKRP genes, involved in various types of Limb Girdle Muscular Dystrophy types.

P176 CAPN3

Contains probes for the CAPN3 gene, involved in Limb Girdle Muscular Dystrophy 2A (LGMD2A).

View all

General information

The SALSA MLPA Probemix P436 ANO5 is a research use only (RUO) assay for the detection of deletions or duplications in the ANO5 gene, which is associated with limb girdle muscular dystrophy type 2L (LGMD2L). This probemix can also be used to detect the presence of the ANO5 c.191dupA point mutation.

LGMD2L or anoctaminopathy is a condition mainly characterised by adult onset proximal lower limb muscular weakness and raised creatine kinase (CK) values, due to recessive anoctamin 5 (ANO5) gene mutations. This gene encodes a member of the anoctamin family of transmembrane proteins, and the encoded protein is likely a calcium activated chloride channel. An exon 5 founder mutation (c.191dupA) represents 61% of mutated alleles and appears to be more prevalent in Northern European populations (Sarkozy et al. 2013). The c.191dupA mutation leads to a frameshift and to premature truncation, which strongly suggests that c.191dupA is associated with a loss of ANO5 function (Bolduc et al. 2010).

The ANO5 gene (22 exons) consists of ~90 kb of genomic DNA and is located at 11p14.3, 22 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK114459/.

Regulatory status

SALSA MLPA Probemix P436 ANO5 is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD033 is an artificial DNA sample with a signal for all probes in the P436 ANO5 probemix. Inclusion of a reaction with SD033 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 SD033 is included with every order of the P436 ANO5 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P436-025R
SALSA MLPA Probemix P436 ANO5 – 25 rxn
MLPA
€ 296.00
P436-050R
SALSA MLPA Probemix P436 ANO5 – 50 rxn
MLPA
€ 580.00
P436-100R
SALSA MLPA Probemix P436 ANO5 – 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

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
SD033
SALSA Binning DNA SD033 – 6 rxn
MLPA
€ 25.00

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