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Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication
2011235
Ordering Recommendation

Appropriate first-tier genetic test for DMD/BMD. Useful when familial deletion is known. Does not detect sequence variations.

Mnemonic
DMD DD
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By Report
Interpretive Data
Background information for Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication:
Characteristics
: Symptoms of Duchenne muscular dystrophy (DMD) usually begin before age 6 and include fatigue, learning difficulties, muscle weakness (beginning in legs and pelvis), progressive difficulty walking with wheelchair needed at approximately 12 years and breathing difficulties and heart disease by age 20 years. Symptoms of Becker muscular dystrophy (BMD) are similar to DMD but start later and progress at a slower rate. Dilated cardiomyopathy has been observed in nearly all affected males and many female carriers of DMD and BMD.
Incidence
: DMD: 1 in 3,500 male births, BMD: 1 in 19,000 male births.
Inheritance
: X-linked; de novo mutations occur in one-third of cases.
Penetrance
: Males: 100 percent. Females: Varies with X-chromosome inactivation.
Cause
: Pathogenic DMD mutations.
Clinical Sensitivity:
DMD: 55-75 percent, BMD: 75-90 percent.
Methodology
: Multiplex ligation-dependent probe amplification (MLPA) to detect large exonic deletions/duplications.
Analytical Sensitivity and Specificity
: Greater than 99 percent.
Limitations
: DMD base pair substitutions, small deletions/duplications, deep intronic, and regulatory region mutations will not be detected. Breakpoints for large deletions/duplications will not be determined. Diagnostic errors can occur due to rare sequence variation.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81161
Components
Component Test Code*Component Chart NameLOINC
2011236Duchenne/Becker MD (DMD) DelDup Specimen
2011237Duchenne/Becker MD (DMD) DelDup Interp21247-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases