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HelpTest ID: DBMD Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies
Useful For
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
This test is for genetic deletions and duplications only.
If testing is being performed due to family history, documentation regarding the familial variant before testing an asymptomatic individual or proceeding with carrier testing is preferred.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm
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.
Method Name
Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)
Reporting Name
DMD/BMD Deletion/DuplicationSpecimen Type
VariesAdditional Testing Requirements
All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Prenatal Specimens
Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL
Specimen Stability Information: Refrigerated (preferred)/Ambient
Specimen Type: Chorionic villi
Container/Tube: 15-mL tube containing 15 mL of transport media
Specimen Volume: 20 mg
Specimen Stability Information: Refrigerated
Acceptable:
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Minimum Volume
Blood: 1 mL
Amniotic Fluid: 10 mL
Chorionic Villus: 5 mg
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
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 years 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 variants 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 variants, which are not detected by this assay.
Approximately one-third of sporadic cases of DMD/BMD occur due to new variants. 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 variant even if the variant 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 variant.
Reference Values
An interpretive report will be provided.
Interpretation
An interpretive report will be provided.
Clinical Reference
1. Thompson MW, McInnes RR, Willard HF: Genetics in Medicine. 5th ed. WB Saunders Company; 1991:367-372
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. doi: 10.1371/journal.pone.0004347
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. doi: 10.1177/0009922810378738
Day(s) Performed
Batched 1 time per week
Report Available
14 to 21 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81161-DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis and duplication analysis, if performed
Fibroblast Culture for Genetic Test
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
Amniotic Fluid Culture/Genetic Test
88235-Tissue culture for amniotic fluid (if appropriate)
88240-Cryopreservation (if appropriate)
Maternal Cell Contamination, B
81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| DBMD | DMD/BMD Deletion/Duplication | 75385-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 55261 | Result Summary | 50397-9 |
| 55262 | Result | 75385-5 |
| 55263 | Interpretation | 69047-9 |
| 55264 | Specimen | 31208-2 |
| 55265 | Source | 31208-2 |
| 55266 | Released By | 18771-6 |
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
- Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information in Special Instructions
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
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