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SALSA MLPA P035 DMD mix 2 probemix

SALSA® MLPA® probemixes P034 DMD-1 and P035 DMD-2 detect copy number variations in the DMD gene.

Specifications

Contents: P034 DMD-1 and P035 DMD-2 together contain 97 MLPA probes, including probes for all 79 DMD exons in the transcript variant Dp427m and 1 probe for exon 1 in the transcript variant Dp427c.

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

Application: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).

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

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Intended purpose

The SALSA MLPA Probemixes P034 DMD-1 and P035 DMD-2 are in vitro diagnostic (IVD) or a research use only (RUO) semi-quantitative assays for the detection of deletions or duplications in the DMD gene in genomic DNA isolated from human peripheral whole blood specimens, (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. P034 DMD-1 and P035 DMD-2 are intended to confirm a potential cause for and clinical diagnosis of Duchenne muscular dystrophy or Becker muscular dystrophy, for molecular genetic testing of at-risk family members, and for carrier screening.

For the full intended purpose, see the product description.

Clinical background

Germline defects in the dystrophin (DMD) gene are the most frequent cause of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD and BMD occur almost exclusively in males as they are inherited in an X-linked recessive manner. DMD usually has an early onset in childhood with delayed milestones, which include delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty in climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by the age of 13. Respiratory complications and cardiomyopathy occur in individuals with DMD after the age of 18 and a few survive beyond the third decade of life. In contrast, BMD has a slower rate of progression and patients on average survive until their mid-40s. More information on both conditions is available at http://www.ncbi.nlm.nih.gov/books/NBK1119/.

Deletions and duplications of complete exons in the DMD gene are the most frequent cause of DMD/BMD and are usually missed by standard sequence analysis. Most of these deletions and duplications can be detected by the MLPA technique and hence MLPA complements sequence analysis of the DMD gene. Approximately 60-70% of mutations found in patients with DMD and BMD are deletions. Duplications in the DMD gene are found in 5-15% of DMD patients and 20% of BMD patients, respectively (Duan et al. 2021). Best practice guidelines on molecular diagnostics in DMD and BMD have been published (Abbs et al. 2010, Fratter et al. 2020).

Regulatory status

SALSA MLPA P035 DMD mix 2 probemix 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, Israel and Morocco.

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

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P035-025R
SALSA MLPA P035 DMD mix 2 probemix – 25 rxn
MLPA
€ 286.00
P035-050R
SALSA MLPA P035 DMD mix 2 probemix – 50 rxn
MLPA
€ 560.00
P035-100R
SALSA MLPA P035 DMD mix 2 probemix – 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.

Current product version: B1

We have no information about specific commercially available positive samples that can be used with this product.

Previous product version: B2

The commercially available positive samples below have been tested with P034-B2 and/or P035-B1 and have been shown to produce useful results.

P034

  • Coriell NA05117 (f): Heterozygous deletion affecting the probe for DMD exon 45.

P034 & P035

  • Coriell NA05123 (m): Duplication affecting the probes for DMD exon 45-62.
  • Coriell NA23087 (f): Heterozygous duplication affecting the probes for DMD exon 2-30.
  • Coriell NA23094 (f): Heterozygous deletion affecting the probes for DMD exon 35-43.

P035

Resources

General MLPA resources

MLPA education

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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).

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.

MA

IVD-registered in Morocco.