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Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal
2011231
Ordering Recommendation

Prenatal test for known DMD gene deletions/duplications previously identified in a family member. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to ordering.

Mnemonic
DMD DD FE
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 10 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
Fetal Specimen: Two T-25 flasks at 80 percent confluency of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.
AND Maternal Cell Contamination Specimen
: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80 percent confluency of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete.
Maternal Cell Contamination Specimen:
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Amniotic Fluid: Room temperature.
Cultured Amniocytes:
CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Maternal Cell Contamination Specimen:
Room temperature. 
Unacceptable Conditions
 
Remarks
Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services at (800) 522-2787. 
Stability
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen
: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background information for Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal:
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.

For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

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; 81265
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Contamination Study Fetal Spec31208-2
0050612Maternal Contam Study, Maternal Spec31208-2
2011232DMD DelDup Fetal Specimen
2011233Duchenne/Becker DelDup Fetal 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
  • Dystrophinopatihies