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P035 DMD Mix 2

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

Specifications

Contents: P034 DMD Mix 1 and P035 DMD Mix 2 together contain 100 MLPA probes, including 82 probes for DMD (covering all exons in the transcript variant Dp427m, with an additional 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).

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

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List Prices Documentation

Key related products

D028 Carrier Panel 1

Targets 9 regions associated with autosomal recessive or X-linked disorders that are frequently tested for in carrier analysis: SMN1, DMD, CYP21A2, HBA, HBB, CFTR, DFNB1, CLN3, and CTNS.

P034 DMD Mix 1

Duchenne muscular dystrophy and Becker muscular dystrophy. Targets all DMD exons when used together with P035.

P116 SGC

Limb girdle muscular dystrophy (LGMD). Targets SGCA, SGCB, SGCD, SGCG, and FKRP.

P176 CAPN3

Limb girdle muscular dystrophy (LGMD). Targets CAPN3.

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

New versions of the P034 and P035 probemixes have been released in March 2026. The previous versions (P034-B2 and P035-B1) can still be ordered until December 2026. Please indicate the product version of your choice when ordering. If no product version is mentioned, the latest (C1) version will be shipped.

Intended purpose

The SALSA MLPA Probemixes P034 DMD Mix 1 and P035 DMD Mix 2 are in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual 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 Mix 1 and P035 DMD Mix 2 are intended to confirm a potential cause for and clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), 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 typically being wheelchair-dependent by the age of 13. Respiratory complications and cardiomyopathy often develop after age 18. Historically few patients survived beyond the third decade of life. However, survival has improved considerably with modern multidisciplinary care, including corticosteroid therapy, respiratory support, and cardiac management. 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).

A deletion of one or more DMD exons present in the major transcript variant Dp427m is expected to result in DMD/BMD in males. However, deletion of the promoter or exon 1 of this transcript variant, which is the most abundant transcript in muscle, has been reported to result in X-linked dilated cardiomyopathy (Muntoni et al. 1993; Nakamura 2015). Interestingly, despite the loss of the muscle-specific promoter, relatively high levels of dystrophin can be detected in skeletal muscle, suggesting that transcription is driven by an alternative brain/cortical promoter (Dp427c), resulting in a distinct phenotype.

A duplication of an internal part of a gene usually results in a defective copy of that gene, due to tandemly repeated sequences, resulting in a defective transcript. Duplication of the complete DMD gene is not expected to result in disease. Duplications that include the first or last exon of a gene (e.g. exons 1-3) may, in some cases, not result in inactivation of that gene copy.

Furthermore, not all exon deletions are pathogenic. Schwartz et al. (2007) described a healthy adult male with a deletion of exon 16 and parts of introns 15 and 16. Their findings suggest that some gene rearrangements of the dystrophin gene may not always be disease-causing. Hence, caution is warranted when interpreting such variants.

Given these observations, prediction of clinical phenotype based solely on genotype should be made with caution. Factors such as reading frame (in-frame vs. out-of-frame), the extent and location of the mutation, and potential use of alternative promoters can influence disease severity. The DMD reading frame tool provides an aid for predicting the effect of deletions or duplications on the reading frame, but confirmation at the RNA level is recommended, as DNA-based predictions do not always reflect the actual transcriptional outcome.

Although DMD and BMD primarily affect males due to its X-linked recessive inheritance, female carriers can occasionally manifest symptoms due to skewed X-inactivation (Korotkova et al. 2025; Sun et al. 2024; Yoshioka et al. 1998). In these cases, the X chromosome carrying the normal DMD gene is preferentially inactivated in a significant proportion of cells, leading to reduced dystrophin expression. This can result in a clinical phenotype ranging from mild muscle weakness to a presentation similar to DMD or BMD.

Regulatory status

SALSA MLPA Probemix P035 DMD Mix 2 is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe. This assay is also registered for IVD use in Colombia, Costa Rica, Israel and Morocco.

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

Product documentation

Version C1

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 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
P035-025R
SALSA MLPA Probemix P035 DMD Mix 2 – 25 rxn
MLPA
€ 296.00
P035-050R
SALSA MLPA Probemix P035 DMD Mix 2 – 50 rxn
MLPA
€ 580.00
P035-100R
SALSA MLPA Probemix P035 DMD Mix 2 – 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.

Information about positive samples for the current (C1) version of this product is not (yet) available. The information below is for older product versions, and may not apply to the current product version.

Previous product version: B1

The commercially available positive samples below can be used with P034-B2 and/or P035-B1.

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

Publications

Selected publications using P035 DMD Mix 2

  • Amr K et al. (2024). Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants. J Genet Eng Biotechnol. 22:100436.
  • Ge L et al. (2024). DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy. Open Med (Wars). 19:20240916.
  • Hua C et al. (2023). Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis. BMC Med Genomics. 16:310.
  • Li M et al. (2021). Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families. Maternal-Fetal Medicine. 3:246-54.
  • Sait H et al. (2023). Validation of MLPA-detected Single Exon Deletion of the DMD Gene by Multiplex PCR. Genetic Clinics. 16:14-9.
  • 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.
  • Xie Y et al. (2025). Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies. Clin Pediatr (Phila). 64:480-93.
  • 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.
  • Zhong X et al. (2021). DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years. BMC Med Genomics. 14:181.

References

  • Muntoni F et al. (1993). Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 329:921-5.
  • Nakamura A (2015). X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy. Pharmaceuticals (Basel). 8:303-20.
  • Schwartz M et al. (2007). Deletion of exon 16 of the dystrophin gene is not associated with disease. Hum Mutat. 28:205.
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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.

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.

CR

IVD-registered in Costa Rica.

IL

IVD-registered in Israel.

MA

IVD-registered in Morocco.