Choose your country to see the products for your location

SALSA MLPA Probemix P041 ATM-1

SALSA® MLPA® Probemixes P041 ATM-1 and P042 ATM-2 detect copy number variations in the ATM gene.

Specifications

Contents: P041 ATM-1 and P042 ATM-2 together contain 90 MLPA probes, including probes for all 63 ATM exons.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: ataxia-telangiectasia (A-T) and hereditary predisposition to develop cancer.

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

Quick links

List Prices Documentation

Key related products

SALSA MLPA Probemix P002 BRCA1

Hereditary breast cancer, screening BRCA1.

SALSA MLPA Probemix P037 CLL-1

Tumour mix that contains probes for genes involved in chronic lymphocyte leukaemia. Several ATM probes are included.

SALSA MLPA Probemix P038 CLL-2

Tumour mix that contains probes for genes involved in chronic lymphocyte leukaemia. Several ATM probes are included.

View all

Intended purpose

The SALSA MLPA Probemixes P041 ATM-1 and P042 ATM-2 are in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assays for the detection of deletions or duplications in the ATM gene in genomic DNA isolated from human peripheral whole blood specimens. P041 ATM-1 and P042 ATM-2 are intended to confirm a potential cause for and clinical diagnosis of Ataxia-Telangiectasia or hereditary predisposition to develop cancer, including but not limited to breast cancer, and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Mutations in the ATM gene cause Ataxia-Telangiectasia (A-T, also known as Louis-Bar syndrome). A-T is an autosomal recessive disorder affecting the nervous system, immune system and several other organs. It is characterised by progressive cerebellar ataxia, telangiectases, and a predisposition to malignancy, particularly leukaemia and lymphoma. A-T patients often have a weakened immune system and develop chronic lung infections. It occurs in 1 in 40,000 to 100,000 people worldwide.

The ATM protein is a member of the phosphatidylinositol-3 kinase family of proteins that respond to DNA damage by phosphorylating key substrates involved in DNA repair and/or cell cycle control. This could explain the increased risk in ATM heterozygotes of developing malignancies, in particular breast cancer. Around 1% of breast cancer patients harbour mutations in ATM (Buys et al. 2017, Lerner-Ellis et al. 2015). The relative risk for developing breast cancer is estimated to be two to four fold compared to the general population (Tavtigian et al. 2009, Thompson et al. 2005). Germline heterozygous pathogenic ATM variants have also been reported in several types of leukaemia and lymphoma and hereditary pancreatic cancer (Bullrich et al. 1999, Oguchi et al. 2003, Roberts et al. 2012).

Regulatory status

SALSA MLPA Probemix P041 ATM-1 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P041-025R
SALSA MLPA Probemix P041 ATM-1 – 25 rxn
MLPA
€ 281.00
P041-050R
SALSA MLPA Probemix P041 ATM-1 – 50 rxn
MLPA
€ 550.00
P041-100R
SALSA MLPA Probemix P041 ATM-1 – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

Learning

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

CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

IL

IVD-registered in Israel.