Dystrophinopathies genetic study

Dystrophinopathies genetic study

[DMD]

TURNAROUND TIME: 6 WEEKS

For DMD, the following techniques can be performed:

  • MLPA (for the detection of deletions/duplications of one or more exons)
  • NGS (able to detect CNVs, point mutations and small in/dels)
RELATED PHENOTYPES
Duchenne muscular dystrophy
Becker muscular dystrophy
X-linked dilated cardiomyopathy
Other DMD-related phenotypes
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.
  3. Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155.
  4. Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321.
  5. Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569.
  6. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161.
  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.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria