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SALSA® MLPA® Probemixes P041 ATM-1 and P042 ATM-2 detect copy number variations in the ATM gene.
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.
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.
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).
SALSA MLPA Probemix P042 ATM-2 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.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
The commercially available positive samples below have been tested with the current (B2) version of this product and have been shown to produce useful results.