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SALSA MLPA Probemix P042 ATM-2

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.

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List Prices Documentation

Key related products

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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.

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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 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.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P042-025R
SALSA MLPA Probemix P042 ATM-2 – 25 rxn
MLPA
€ 281.00
P042-050R
SALSA MLPA Probemix P042 ATM-2 – 50 rxn
MLPA
€ 550.00
P042-100R
SALSA MLPA Probemix P042 ATM-2 – 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

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.

The commercially available positive samples below have been tested with P041-B1 and P042-B2 and have been shown to produce useful results.

P041 & P042

  • Coriell NA00959: Heterozygous duplication affecting the probes for ATM.
  • Coriell NA08618: Heterozygous duplication affecting the probes for ATM.
  • Coriell NA09596: Heterozygous deletion affecting the probes for ATM.
  • Coriell NA15099: Heterozygous duplication affecting the probes for ATM.
  • Coriell HG03694: Heterozygous duplication affecting the probes for ATM intron 61 at 474 nt and 419 nt, and ATM exon 62-63.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P042 ATM-2

  • Bartsch O et al. (2012). A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. Eur J Med Genet. 55:49-55.
  • Cavalieri S et al. (2008). Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Ann Hum Genet. 72:10-8.
  • Chessa L et al. (2009). Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. Ann Hum Genet. 73:532-9.
  • Claes K et al. (2013). Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. Neuromolecular Med. 15:447-57.
  • Huang Y et al. (2013). Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. Neuromolecular Med. 15:536-40.
  • Jacquemin V et al. (2012). Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. Eur J Hum Genet. 20:305-12.
  • Micol R et al. (2011). Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol. 128:382-9.e1.
  • Nakamura K et al. (2012). Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Hum Mutat. 33:198-208.
  • Podralska MJ et al. (2014). Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Mol Genet Genomic Med. 2:504-11.
  • Soukupova J et al. (2011). Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. Neuromolecular Med. 13:204-11.
  • Verhagen MMM et al. (2012). Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat. 33:561-71.

References

  • Bullrich F et al. (1999). ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Res. 59:24-7.
  • Buys SS et al. (2017). A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 123:1721-30.
  • Lerner-Ellis J et al. (2015). Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer. Expert Rev Anticancer Ther. 15:1315-26.
  • Oguchi K et al. (2003). Missense mutation and defective function of ATM in a childhood acute leukemia patient with MLL gene rearrangement. Blood. 101:3622-7.
  • Roberts NJ et al. (2012). ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2:41-6.
  • Tavtigian SV et al. (2009). Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 85:427-46.
  • Thompson D et al. (2005). Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 97:813-22.
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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.