Dystrophinopathies. Sequencing of the DMD gene by NGS [1 gene]

Sequencing by NGS

To study DMD, a study can be carried out using NGS: it is also capable of detecting point mutations and small indels.

It is an inherited disorder. This involves muscle weakness, which worsens quickly.

Causes: Duchenne muscular dystrophy is a form of muscular dystrophy that gets worse quickly. Other muscular dystrophies (including Becker muscular dystrophy) worsen much more slowly.

Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in muscles). However, it often occurs in people with families with no known history of this condition.

The condition most often affects children because of the way the disease is inherited. Sons of women who are carriers of the disease (women with a defective chromosome, but who do not have symptoms) each have a 50% chance of having the disease, and daughters each have a 50% chance of being carriers. On very rare occasions, a woman may be affected by the disease.

Duchenne muscular dystrophy occurs in approximately 1 in 3,600 males. Because it is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.

Diagnostic standard in diseases of the DMD spectrum. Allows advice, prognosis, supportive treatment, and disease modifier genes.

  • Duchenne muscular dystrophy
  • Becker muscular dystrophy
  • X-linked dilated cardiomyopathy
  • Other DMD-related phenotypes

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Dystrophinopathies. Sequencing of the DMD gene by NGS

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201602252

Dystrophinopathies. Sequencing of the DMD gene by NGS: View panel
  • DMD

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Limb-girdle muscular dystrophies [43 genes]

Childhood- and adult-onset structural GMDs [64 genes]

Congenital genetic muscle disorders (GMD) with structural abnormalities [78 genes]

Genetic muscle disorders (GMD) with structural abnormalities [133 genes]

Genetic muscle disorders (GMD) [330 genes]

References

  1. Darras BT, Menache-Stroninki CC, Hinton V, Kunkel LM. Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach, 2nd ed, Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (Eds), Academic Press, San Diego 2015.
  2. Emery AE. The muscular dystrophies. Lancet 2002; 359:687-95.
  3. Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155-66.
  4. Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321-26.
  5. Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569-75.
  6. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161-71.
  7. Sharma MC, Jain D, Sarkar C, Goebel HH. Congenital myopathies–a comprehensive update of recent advancements. Acta Neurol Scand. 2009 May;119(5):281-92.
  8. Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535-70.