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Dystrophinopathies genetic study (the DMD gene) [1 gene]
For the study of DMD, the following options are available:
- a study via the MLPA technique (for the detection of the deletion/duplication of one or more exons)
- a study via NGS (capable of also detecting point mutations and small indels)
Request study
Informed consent
Steps to follow
Ask for information
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
Solicita información de
Dystrophinopathies genetic study (the DMD gene)
Turnaround time (TAT): 6 weeks
Ref. S-201602252
Dystrophinopathies genetic study (the DMD gene): 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.
Phenotypes
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- X-linked dilated cardiomyopathy
- Other DMD-related phenotypes
References
- 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.
- Emery AE. The muscular dystrophies. Lancet 2002; 359:687-95.
- Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155-66.
- Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321-26.
- Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569-75.
- Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161-71.
- 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.
- Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535-70.