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SALSA MLPA Probemix P095 Aneuploidy

SALSA® MLPA® Probemix P095 Aneuploidy detects the copy number of chromosomes 13, 18, 21, X and Y.

Specifications

Contents: 36 MLPA probes, including 8 probes for each of the chromosomes 13, 18, 21, X and, 4 probes for the Y chromosome.

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

Application: Patau, Edwards and Down syndromes and Turner, Triple X, Klinefelter, 47,XYY syndromes.

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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P064 Microdeletion Syndromes-1B

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

P070 Subtelomeres Mix 2B

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

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Intended purpose

The SALSA MLPA Probemix P095 Aneuploidy is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications of eight DNA sequences on each of four human chromosomes (13, 18, 21, X) and four sequences on chromosome Y as a means to detect an aneuploidy for one of these chromosomes in prenatal and postnatal DNA samples. For postnatal samples, genomic DNA isolated from human peripheral whole blood specimens or buccal swabs can be used. For prenatal samples, genomic DNA isolated from (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, or fetal blood can be used. P095 Aneuploidy is intended to confirm a potential cause for and clinical diagnosis of Patau, Edwards and Down syndromes (trisomy 13, 18 and 21, respectively) and Turner, Triple X, Klinefelter, 47, XYY syndromes (X/Y chromosome aneuploidies). This probemix cannot distinguish between normal females (46,XX) and triploid females (69,XXX).

For the full intended purpose, see the product description.

Clinical background

Germline aneuploidy of a complete chromosome is the main cause of spontaneous pregnancy loss. The most common cases of an abnormal chromosome copy number at birth concern the presence of an extra chromosome 13, 18 or 21 (leading to Patau, Edwards and Down syndromes, respectively), each resulting in intellectual disability and various syndromic birth defects. The presence of an extra or missing sex chromosome e.g. X0, XXX, XXY, XYY, results generally in less severe consequences (Turner, Triple X, Klinefelter, and XYY syndromes respectively). Full chromosome gain or loss account for the majority of cases, while a minority results from partial chromosome duplications or mosaicism.

More information can be found on Decipher (http://decipher.sanger.ac.uk/) and in the references listed at the end of this product description. For more information about a specific syndrome, the MedlinePlus database can be consulted:

https://medlineplus.gov/genetics/condition/trisomy-13/ Patau syndrome (Trisomy 13)

https://medlineplus.gov/genetics/condition/trisomy-18/ Edwards syndrome (Trisomy 18)

https://medlineplus.gov/genetics/condition/down-syndrome/ Down syndrome (Trisomy 21)

https://medlineplus.gov/genetics/condition/klinefelter-syndrome/ Klinefelter syndrome (47,XXY)

Regulatory status

SALSA MLPA Probemix P095 Aneuploidy is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia, Israel and Morocco.

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

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P095-025R
SALSA MLPA Probemix P095 Aneuploidy – 25 rxn
MLPA
€ 286.00
P095-050R
SALSA MLPA Probemix P095 Aneuploidy – 50 rxn
MLPA
€ 560.00
P095-100R
SALSA MLPA Probemix P095 Aneuploidy – 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 (A4) version of this product and have been shown to produce useful results.

  • Coriell NA02948 (m): Trisomy of chromosome 13 affecting all probes targeting this chromosome.
  • Coriell NA02422 (f): Trisomy of chromosome 18 affecting all probes targeting this chromosome.
  • Coriell NG05024 (f): Trisomy of chromosome 21 affecting all probes targeting this chromosome.
  • Coriell NA04375 (m): Klinefelter variant 48, XXYY. All probes targeting chromosomes X and Y are affected.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P095 Aneuploidy

  • Boormans EMA et al. (2012). Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis. Arch Gynecol Obstet. 285:67-75.
  • Carvalho B et al. (2010). Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results? Eur J Obstet Gynecol Reprod Biol. 153:151-5.
  • Faas BHW et al. (2011). Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies. Semin Fetal Neonatal Med. 16:81-7.
  • Gerdes T et al. (2005). Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection). Electrophoresis. 26:4327-32.
  • Grandone A et al. (2016). Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. Horm Res Paediatri. 86:330-6.
  • Hochstenbach R et al. (2005). Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn. 25:1032-9.
  • Kooper AJA et al. (2009). Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification. J Mol Diagn. 11:17-24.
  • Van Opstal D et al. (2009). Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet. 17:112-21.
  • Yurdakul H et al. (2010). Performance of MLPA as a screening method for aneuploidy in uncultured amniocytes. J Turk Ger Gynecol Assoc. 11:199-203.

References

  • Schouten J et al. (2008). MLPA for prenatal diagnosis of commonly occurring aneuploidies. Methods Mol Biol. 444:111-22.
  • Schouten J et al. (2019). Multiplex Ligation-Dependent Probe Amplification (MLPA) for Prenatal Diagnosis of Common Aneuploidies. Methods Mol Biol. 1885:161-70.
  • Willis AS et al. (2012). Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn. 32:315-20.
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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.

MA

IVD-registered in Morocco.