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SALSA MLPA Probemix P041 ATM-1

Ataxia-telangiectasia (AT); Predisposition to develop cancer, hereditary

Region: ATM 11q22.3

MLPA | CE IL MA
Intended use: The SALSA MLPA probemixes P041 ATM-1 and P042 ATM-2 are in vitro diagnostic (IVD)1 or research use only (RUO) assays for the detection of deletions or duplications in the human ATM gene in order to confirm a potential cause and clinical diagnosis for Ataxia-Telangiectasia or hereditary predisposition to develop cancer, including but not limited to breast cancer. This product can also be used for molecular genetic testing of at-risk family members.

This assay is for use with human DNA extracted from peripheral blood and not for use with DNA extracted from formalin-fixed paraffin embedded or fresh tumour materials. Deletions or duplications detected with the P041/P042 probemixes must be verified by another technique. In particular, deletions or duplications detected by only a single probe always require validation by another method. Most defects in ATM are point mutations, none of which will be detected by MLPA. It is therefore recommended to use these SALSA MLPA probemixes in combination with sequence analysis of the ATM gene.

This assay is not intended to be used as a standalone assay for clinical decisions. The results of this test must be interpreted by a molecular geneticist or equivalent.

1Please note that this probemix is for In Vitro Diagnostic use (IVD) in the countries specified at the end of this product description. In all other countries, the product is for Research Use Only (RUO).

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).

Probemix content: The P041-B1 and the P042-B2 probemixes each contain 34 probes for the ATM gene. When used together, a probe for each ATM exon is present, including one probe for intron 1, two probes for exon 1 and 61 and two probes for intron 61.

The P041-B1 probemix contains 45 MLPA probes with amplification products between 130 and 485 nt in length including 11 reference probes. The P042-B2 probemix contains 45 probes with amplification products between 131 and 485 nt in length, 11 of which are reference probes. The identity of the genes detected by the reference probes is available online (www.mlpa.com).

These probemixes contain nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P041-025R
SALSA MLPA Probemix P041 ATM-1 – 25 rxn
€ 243.00
P041-050R
SALSA MLPA Probemix P041 ATM-1 – 50 rxn
€ 486.00
P041-100R
SALSA MLPA Probemix P041 ATM-1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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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).

IL

IVD-registered in Israel.

MA

IVD-registered in Morocco.