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SALSA MLPA Probemix ME032 UPD7-UPD14

SALSA MLPA Probemix ME032 UPD7-UPD14 detects copy number variations and methylation status of the imprinted 7q32, 7p12 and 14q32 regions, including the GRB10, MEST, DLK1, MEG3 and RTL1 genes.

Specifications

Contents: 48 MLPA probes, including 9 probes for the 7p12.2 region, 8 probes for the 7q32.2 region, 12 probes for the 14q32.2 region and 3 probes for the 14q32.31 region. Of these probes, 10 provide information on the methylation status for all regions mentioned.

Tissue: Genomic DNA isolated from human peripheral whole blood.

Application: Temple syndrome (TS), Kagami-Ogata syndrome (KOS) and Russell-Silver syndrome (RSS).

CE-marked for in vitro diagnostic (IVD) use.

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List Prices Documentation

Key related products

ME028 Prader-Willi/Angelman

Primary screening for Prader-Willi syndrome and Angelman syndrome.

ME030 BWS/RSS

Primary screening for Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

ME031 GNAS

Probes for the 20q13.32 imprinted GNAS region.

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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 format of the product description. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemix ME032 UPD7-UPD14 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assay to be used with genomic DNA isolated from human peripheral blood. ME032 UPD7-UPD14 is intended for the detection of hypermethylation of the GRB10 and/or MEST differentially methylated regions (DMRs) on 7q12 and 7q32 in combination with one or two copies of the GRB10 and/or MEST genes and their DMRs to confirm a potential cause for Russell-Silver syndrome. Moreover, this assay can detect hypermethylation of the MEG3:TSS-DMR on 14q32 in combination with one or two copies of the DLK1, MEG3 and RTL1 and their DMRs to confirm a potential cause for Kagami-Ogata syndrome (KOS). Lastly, ME032 UPD7-UPD14 allows for the detection of hypomethylation of the MEG3:TSS-DMR on 14q32 in combination with one or two copies of the DLK1, MEG3 and RTL1 genes and their DMRs to confirm a potential cause for and clinical diagnosis of Temple syndrome (TS).

For the full intended purpose, see the product description.

Clinical background

Genomic imprinting is the monoallelic expression of genes, dependent on the parental origin of the chromosome. It plays a role in growth and development. Imprinting disorders originate from a disturbance in this monoallelic expression by disruption or epimutation of imprinted genes (Ishida et al., 2013). A frequent cause of imprinting disorders is uniparental disomy (UPD), which occurs when both alleles are inherited from a single parent instead of one copy from each parent. This aberrant genetic inheritance causes disturbed genomic imprinting and results in either the overexpression or complete silencing of genes that are expressed parent-specifically. Differentially methylated regions (DMRs) act as imprinting control regions to regulate the imprinted expression of the genes. Most frequently, UPD does not result in any phenotypical anomalies but UPD can cause unmasking of an autosomal-recessive disease or can present itself as a syndromic imprinting disorder.

Russell-Silver syndrome (RSS; Silver-Russell syndrome (SRS)) is characterised as a clinically heterogeneous condition with a variable phenotype (Wakeling et al. 2017). Intrauterine and postnatal growth retardation, however, are consistently observed in all RSS patients, who are at significant risk for developmental delay and learning disabilities. Although rare, RSS can be inherited in an autosomal dominant or recessive manner. The prevalence is estimated between 1 and 9 in 1.000.000 (Orphanet, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=813).

Temple syndrome (TS; TS14; maternal uniparental disomy 14 (UPD14mat)) is a short stature disorder of imprinting, characterised among other features by low birth weight and length and premature puberty (Hoffmann and Heller, 2011). In TS patients, the proportion of children with learning difficulties or intellectual disability is increased compared to the general population. Intrauterine growth retardation occurs in 90% of the TS patients. TS shows an age-dependent overlap with the well-known maternal UPD15 Prader-Willi syndrome. TS is a very rare disease with a prevalence < 1 in 1.000.000 (Orphanet, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=813).

Kagami-Ogata syndrome (KOS; KOS14; paternal uniparental disomy 14 (UPD14pat)) is a foetal malformation syndrome, characterised by polyhydramnios and a bell-shaped chest with angulated ribs ("coat-hanger configurations"), which leads to pulmonary hypoplasia and abdominal wall defects (Hoffmann and Heller 2011). The clinical course of KOS is marked by the severe and often lethal respiratory insufficiency, feeding difficulties with postnatal growth failure, and moderate to severe intellectual disability. The prognosis in most cases is very poor. However, there has been no report of death in patients ≥4 years of age (Ogata and Kagami 2016). After intense medical treatment in infancy, these patients become free of mechanical ventilation, tracheostomy and feeding tube. Despite developmental delay, they manage to get on their daily lives from childhood. KOS is a very rare disease with a prevalence < 1 in 1.000.000 (Orphanet, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254519).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1324 (RSS); https://www.omim.org/entry/616222 (TS); and https://www.omim.org/entry/608149 (KOS).

Regulatory status

SALSA MLPA Probemix ME032 UPD7-UPD14 is IVDR certified for in vitro diagnostic (IVD) use in Europe.

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

Product documentation

Version B1

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 MS-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
ME032-025R
SALSA MLPA Probemix ME032 UPD7-UPD14 – 25 rxn
MS-MLPA
€ 286.00
ME032-050R
SALSA MLPA Probemix ME032 UPD7-UPD14 – 50 rxn
MS-MLPA
€ 560.00
ME032-100R
SALSA MLPA Probemix ME032 UPD7-UPD14 – 100 rxn
MS-MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit and SALSA HhaI are required for MS-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
SMR50
SALSA HhaI – 115 μl
MS-MLPA
€ 46.00

Other products

These optional accessories can be ordered separately.

Item no.
Description
Technology
Price
PCR001-FAM
SALSA PCR Reagents – 100 rxn – FAM
MS-MLPA
€ 173.00
PCR003-FAM
SALSA PCR Reagents – 300 rxn – FAM
MS-MLPA
€ 474.00

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 (B1) version of this product and have been shown to produce useful results.

Chromosome 7

Chromosome 14

  • Coriell NA13410: Homozygous duplication affecting the probes for DLK1, MEG3, RTL1 and MIR380.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using ME032 UPD7-UPD14

  • Beygo J et al. (2015). Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet. 23:180-8.
  • Corsello G et al. (2015). Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation. Am J Med Genet A. 167A:3130-8.
  • Eggermann T et al. (2020). Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. J Mol Med (Berl). 98:1447-55.
  • Irving MD et al. (2010). Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. Am J Med Genet A. 152A:1942-50.
  • Kolarova J et al. (2015). Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype. Eur J Med Genet. 58:419-25.
  • Lande A et al. (2018). Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients. Am J Med Genet A. 176:175-80.
  • Sachwitz J et al. (2016). Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. BMC Med Genet. 17:20.
  • Smeets CCJ et al. (2016). Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? J Clin Endocrinol Metab. 101:2105-12.
  • Tannorella P et al. (2021). Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases. Genes (Basel). 12:588.
  • Yakoreva M et al. (2018). A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. Mol Syndromol. 9:182-9.

References

  • Hoffmann K et al. (2011). Uniparental disomies 7 and 14. Best Pract Res Clin Endocrinol Metab. 25:77-100.
  • Ishida M et al. (2013). The role of imprinted genes in humans. Mol Aspects Med. 34:826-40.
  • Ogata T et al. (2016). Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. J Hum Genet. 61:87-94.
  • Wakeling EL et al. (2017). Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 13:105-24.
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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.

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.