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P070 Subtelomeres Mix 2B

SALSA® MLPA® Probemix P070 Subtelomeres Mix 2B detects copy number variations in subtelomeric regions.

Specifications

Contents: 46 MLPA probes, including 41 probes for the subtelomeric regions, with the exception of the short p-arm of the 5 acrocentric chromosomes (13, 14, 15, 21 and 22). For these, an extra probe is included detecting the q-arm, close to the centromere.

Tissue: genomic DNA isolated from human peripheral whole blood, buccal swabs and specified prenatal samples (see Intended Purpose).

Application: intellectual disability, developmental delay, congenital abnormalities and/or pregnancy loss.

IVDD certified and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

ME028 Prader-Willi/Angelman

Probes to detect an aberrant methylation of one or more sequences of the 15q11 chromosomal region, as well as copy number changes in this chromosomal region (research use only).

P036 Subtelomeres Mix 1

Contains one probe for each of the 41 subtelomeric regions and 5 probes near the centromeric regions of the five acrocentric chromosomes. All probes differ from the P070 probes. We strongly recommend using both P036 and P070 on each sample.

P064 Microdeletion Syndromes-1B

Probes for 15 different microdeletion syndromes; can be used for primary screening of microdeletion syndromes.

View all

Intended purpose

The SALSA MLPA Probemix P070 Subtelomeres Mix 2B is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletion(s) or duplication(s) in subtelomeric regions in genomic DNA isolated from human peripheral whole blood specimens, buccal swabs, (un)cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, (un)cultured chorionic villi free from maternal contamination, fetal blood or products of conception free from maternal contamination. P070 Subtelomeres Mix 2B is intended to confirm a potential cause for and clinical diagnosis of intellectual disability, developmental delay, congenital abnormalities and/or pregnancy loss and for molecular genetic testing of at-risk family members.

It is recommended that results of P070 Subtelomeres Mix 2B are confirmed with P036 Subtelomeres Mix 1.

For the full intended purpose, see the product description.

Clinical background

In the general population, the prevalence of intellectual disability and developmental delay is estimated at 1-3% and the prevalence of congenital anomalies at 2-3% (Castells-Sarret et al. 2017). Clinical signs can include dysmorphic features, language impairment, seizures, learning disabilities, behavioural disturbances and autism spectrum disorders. It has been recognized that worldwide the genetic etiology of individuals with non-syndromic intellectual disability remains undetermined in the majority of cases. Determining the etiology of intellectual disability and developmental delay is important and useful for pediatric neurologists, geneticists, pediatricians, and patients’ families because it allows assessment of recurrence risk, appropriate genetic counselling, and focus on treatment options and prognosis.

Aberrant copy numbers of subtelomeric regions, e.g. due to an unbalanced translocation, are a frequent cause of intellectual disability, developmental delay and/or congenital abnormalities lacking distinct syndromic features. Subtelomeric regions are more likely to be involved in copy number changes as these are less likely to be lethal due to the low amount of critical genes located in these regions. The differences in size and breakpoint location of chromosomal CNVs make the phenotype highly variable among patients, ranging from a non-viable fetus to a phenotypically normal individual. Chromosomal anomalies of the fetus are found in almost half of the miscarriages and are the most common reason for pregnancy loss (Bernatowicz et al. 2019). More information can be found on Decipher (http://decipher.sanger.ac.uk/) and in the references listed at the end of this product description.

Regulatory status

SALSA MLPA Probemix P070 Subtelomeres Mix 2B is CE-marked under the IVDD for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Colombia and Israel.

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

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P070-025R
SALSA MLPA Probemix P070 Subtelomeres Mix 2B – 25 rxn
MLPA
€ 286.00
P070-050R
SALSA MLPA Probemix P070 Subtelomeres Mix 2B – 50 rxn
MLPA
€ 560.00
P070-100R
SALSA MLPA Probemix P070 Subtelomeres Mix 2B – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

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 the current (B3) version of this product and have been shown to produce useful results.

  • Coriell NA22991: Heterozygous deletion affecting the probe for TNFRSF18 on chromosome 1q.
  • Coriell NA00501: Heterozygous deletion affecting the probe for ACP1 on chromosome 2p and heterozygous duplication affecting the probe for FRG1 on chromosome 4q.
  • Coriell NA14131: Heterozygous deletion affecting the probe for CCDC127 on chromosome 5p.
  • Coriell NA06047: Heterozygous deletion affecting the probe for RPH3AL on chromosome 17p.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P070 Subtelomeres Mix 2B

  • Capkova P et al. (2019). MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism. PeerJ. 6:e6183.
  • Ceroni JRM et al. (2018). A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. Sci Rep. 8:13382.
  • Kim JW et al. (2015). Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis. Arch Gynecol Obstet. 291:347-54.
  • Saxena D et al. (2016). Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception. J Postgrad Med. 62:239-41.
  • Wu T et al. (2019). Evaluation of two aneuploidy screening tests for chorionic villus samples: Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization. Mol Cell Probes. 46:101422.
  • Zanardo EA et al. (2017). Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience. Clinics (Sao Paulo). 72:526-37.

References

  • Bernatowicz K et al. (2019). Clinical Utility of MLPA and QF-PCR Techniques in the Genetic Testing of Miscarriages. Russ J Genet. 55:1259-65.
  • Castells-Sarret N et al. (2018). Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis. An Pediatr (Engl Ed). 89:3-11.
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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.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.