Genetic Counseling

Personalized pre- and post-test counseling support

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Non-invasive prenatal screening

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Whole exome sequencing solution

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Comprehensive carrier screening

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Hereditary cancer panel testing

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Duchenne Muscular Dystrophy test by MLPA

Duchenne Muscular Dystrophy (DMD) is a prevalent X-linked recessive neuromuscular disorder primarily affecting children. It results from mutations in the DMD gene, preventing the production of functional dystrophin, a critical protein for skeletal muscle contraction.

First Genomix employs Multiplex ligation-dependent probe amplification (MLPA) to detect substantial deletions or duplications in the dystrophin gene.

Who is recommended to have DMD testing?

  • Patients exhibiting signs of dystrophinopathy and having elevated levels of serum CK
  • Female relatives of men and boys with DMD who wish to assess their disease carrier status

How is the test performed?

For females with male family members affected by DMD, it is important to assess their carrier status to prevent the transmission of the disease to future generations. A genetic diagnosis of DMD in affected males can be obtained by analyzing the DNA in the dystrophin gene for large deletion/duplication mutations. An accurate diagnosis of the condition enables clinicians to make better decisions regarding medical care for those patients.

Results are generally reported as follows:

Diagnostic testing (for males):
  • Deletion/Duplication in DMD gene of the X chromosome: confirms a diagnosis of DMD
Carrier testing (for females):
  • Deletion in DMD gene in one of the X chromosomes: confirms a positive carrier status