Duchenne/Becker muscular dystrophy : DMD Deletion/Duplication (MLPA)

Test Information

Molecular testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in the DMD gene in patients and females that carry the mutation.

Turnaround Time

2 weeks

CPT Code(s)

81161

Cost

$500

Genes

Clinical Information

Both Duchenne muscular dystrophy and the milder Becker muscular dystrophy are due to mutations in the dystrophin gene located on the X chromosome. The characteristic features of these disorders include pseudohypertrophy of the calf muscle, myofiber degeneration, myopathic EMG changes, and dramatic elevations of serum creatine kinase. Approximately two-thirds of mutations in the dystrophin gene are due to deletions and duplications. The majority of the remaining dystrophin defects result from point mutations within the gene.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

multiplex ligation-dependent probe amplification (MLPA)

Detection

Testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in muscular dystrophy in patients and females that carry the mutation. Approximately 75% of patients with DMD and 95% of individuals with BMD will have a deletion or duplication.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Deletion/Duplication, MLPA, Molecular Testing
Meet the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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