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SALSA MLPA Probemix P035 DMD-2

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).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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Key related products

SALSA MLPA Probemix P034 DMD-1

Duchenne muscular dystrophy and Becker muscular dystrophy. Contains probes for all DMD exons when used together with P035.

SALSA MLPA Probemix P048 LMNA/MYOT/ZMPSTE24

Laminopathies; contains probes for the LMNA, MYOT, ZMPSTE24 and CAV3 genes.

SALSA MLPA Probemix P116 SGC

Limb girdle muscular dystrophy (LGMD); contains probes for the SGCA, SGCB, SGCD, SGCG and FKRP genes.

View all

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 Probemix P035 DMD-2 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia, Costa Rica and Israel.

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 Probemix P035 DMD-2 – 25 rxn
MLPA
€ 281.00
P035-050R
SALSA MLPA Probemix P035 DMD-2 – 50 rxn
MLPA
€ 550.00
P035-100R
SALSA MLPA Probemix P035 DMD-2 – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

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.

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 resources

Learning

Publications

Selected publications using SALSA MLPA Probemix P035 DMD-2

  • Deepha S et al. (2017). MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. BMC Med Genet. 18:67.
  • Esterhuizen AI et al. (2014). Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort. S Afr Med J. 104:779-84.
  • Gatta V et al. (2005). Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet. 117:92-8.
  • Han S et al. (2020). Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing. Biomed Res Int. 2020:8396429.
  • Lee SH et al. (2015). Clinical and Genetic Characterization of Female Dystrophinopathy. J Clin Neurol. 11:248-51.
  • Luce LN et al. (2016). MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene. J Neurol Sci. 365:22-30.
  • Nakamura A et al. (2016). Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. J Hum Genet. 61:663-7.
  • Selvatici R et al. (2020). Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Neurol Genet. 7:e536.
  • Traverso M et al. (2018). Clinical and molecular consequences of exon 78 deletion in DMD gene. J Hum Genet. 63:761-4.
  • Zhang J et al. (2019). Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center. BMC Med Genet. 20:180.

References

  • Abbs S et al. (2010). Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord. 20:422-7.
  • Duan D et al. (2021). Duchenne muscular dystrophy. Nat Rev Dis Primers. 7:13.
  • Fratter C et al. (2020). EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet. 28:1141-59.
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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.

CR

IVD-registered in Costa Rica.

IL

IVD-registered in Israel.