Test Catalog

Test ID: DBMD    
Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD)


Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of prognosis)


Determination of carrier status in family member at risk for DMD or BMD


Prenatal diagnosis of DMD or BMD in at-risk pregnancies

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Deletions and duplications only.


If testing is being performed due to family history, documentation regarding the familial mutation before testing an asymptomatic individual or proceeding with carrier testing is preferred.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.


See Neuromuscular Myopathy Testing Algorithm in Special Instructions.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized initially by proximal muscle weakness beginning before age 5 years. Affected individuals typically have pseudohypertrophy of the calf muscles and exhibit toe-walking, waddling gait, and the Gower sign (climbing up the legs when rising from a seated position on the floor). Not only is skeletal muscle affected in DMD, but also the smooth muscle of the gastrointestinal tract and possibly bladder, as well as cardiac muscle.


Initial symptoms are followed by dramatic progression of weakness leading to loss of ambulation by age 11 or 12. Death is often caused by cardiac failure or by respiratory failure before age 30, unless ventilator support is provided.


The allelic Becker muscular dystrophy (BMD) has a similar presentation, although age of onset is later and the clinical course is much milder. Cardiac involvement can be the only sign and patients are often ambulatory into their thirties.


DMD and BMD are caused by mutations in the DMD gene, which encodes for dystrophin. Approximately 50% to 65% of patients have intragenic deletions and approximately 5% to 10% have intragenic duplications. Less frequently, DMD and BMD result from nondeletion and nonduplication mutations, which are not detected by this assay.


Approximately one-third of sporadic cases of DMD/BMD occur due to new mutations. In sporadic cases, it is possible for the mother of an affected individual to have germline mosaicism. This means that the germ cells may contain a mutation even if the mutation is not detected in peripheral blood. In cases of germline mosaicism, which occurs with a frequency of up to 15%, further offspring are at risk for inheriting a dystrophin mutation.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.


This test may not detect deletions/duplications present in very low levels of mosaicism


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Thompson MW, McInnes RR, Willard HF: Genetics in Medicine. Fifth edition. Philadelphia, WB Saunders Company, 1991, pp 367-372

2. Desquerre I, Christov C, Mayer M, et al: Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One 2009;4(2):e4347

3. Verma S, Anziska Y, Cracco J: Review of Duchenne muscular dystrophy (DMD) for the pediatricians in the community. Clin Pediatr (Phila) 2010;49(11):1011-1017

Special Instructions Library of PDFs including pertinent information and forms related to the test