Choose your country to see the products for your location

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, or specified prenatal samples (see Intended Purpose).

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

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

Quick links

List Prices Documentation

Key related products

D024 KaryoProfiler

 digitalMLPA NXtec assay for the detection of gross copy number changes, encompassing all chromosomes, typically at a ~2–4 Mb resolution.

P245 Microdeletion Syndromes-1A

Targets various microdeletion/microduplication syndromes. Can be used for screening.

P036 Subtelomeres Mix 1

Targets the 41 subtelomeric regions, and the centromeric regions of the 5 acrocentric chromosomes, with one probe each. It is recommended to use P036 and P070 on each sample; all probes differ.

P181 Centromere mix 1

Targets the 41 different centromeric regions with one probe each, with an extra probe near the centromeric region of each of the 5 acrocentric chromosomes, resulting in 2 probes for each chromosome.

View all

This product has recently been CE-marked for in vitro diagnostic (IVD) use under the In Vitro Diagnostic Regulation (IVDR; EU 2017/746), which replaces the former CE-marking under the IVD Directive (IVDD; Directive 98/79/EC). This update was accompanied by a change in the intended purpose.

Intended purpose

The SALSA MLPA Probemix P095 Aneuploidy is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual 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 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, and XYY syndromes (X/Y chromosome aneuploidies).

For the full intended purpose, see the product description.

Clinical background

The most frequent cytogenetic abnormalities at birth are aneuploidies, mainly trisomy of chromosomes 13, 18 or 21, and X/Y chromosome aneuploidies. The presence of an extra chromosome 13, 18 or 21, results in Patau, Edwards, or Down syndrome, respectively, which are all characterized in intellectual disability and other syndrome-specific features. Down syndrome is relatively common, occurring in approximately 1 in 700 live births. Edwards syndrome is seen in about 1 per 5,000 live births; Patau syndrome occurs between 1 in 10,000 to 21,700 live births. However, the overall occurrence of these syndromes at conception is higher due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The strongest risk factor for Patau, Edwards and Down syndrome is advance maternal age, as well as prior aneuploid pregnancy.

Sex chromosome abnormalities (SCAs) involve the presence of an extra or missing sex chromosome are more common and have less severe phenotypical consequences. The most common of the sex chromosomal aneuploidy syndromes are Turner (45,X), Klinefelter (47,XXY), Triple X (47, XXX), or XYY (or Jacobs syndrome; 47,XXY) syndromes. Turner syndrome prevalence is 1 in 2,000 to 5,000 female births and Klinefelter syndrome is seen in 1 per 650 male births. Triple X syndrome is seen in 1 per 1,000 female births while the prevalence of XYY syndrome is 1 in 1,000 male births. The triploid syndromes (69,XXX; 69,XXY and 69,XYY) are rare and the vast majority of pregnancies result in miscarriage or stillbirth. Sex chromosome aneuploidies are typically sporadic and arise from maternal or paternal meiotic errors.

Regulatory status

SALSA MLPA Probemix P095 Aneuploidy is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe. This assay is also 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.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P095-025R
SALSA MLPA Probemix P095 Aneuploidy – 25 rxn
MLPA
€ 296.00
P095-050R
SALSA MLPA Probemix P095 Aneuploidy – 50 rxn
MLPA
€ 580.00
P095-100R
SALSA MLPA Probemix P095 Aneuploidy – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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 can be used with the current (A4) version of this product.

  • Coriell NA02269 (m): Klinefelter syndrome, 47, XXY. All probes targeting the X chromosome are affected.
  • Coriell NA02422 (f): Trisomy of chromosome 18 affecting all probes targeting this chromosome.
  • Coriell NA02587 (m): XYY syndrome, 47, XYY. All probes targeting the Y chromosome are affected.
  • Coriell NA02948 (m): Trisomy of chromosome 13 affecting all probes targeting this chromosome.
  • Coriell NA03623 (f): Triple X syndrome and trisomy 18, 48, XXX,+18. All probes targeting chromosomes X and 18 are affected.
  • Coriell NA04375 (m): Klinefelter variant 48, XXYY. All probes targeting chromosomes X and Y are affected.
  • Coriell NG05024 (f): Trisomy of chromosome 21 affecting all probes targeting this chromosome.

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.

Search

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

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.

CE2797

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.