Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal
Use
The prenatal testing for Duchenne and Becker muscular dystrophy (DMD/BMD) is designed for the detection of known DMD gene deletions or duplications that have been previously identified in a family member. This test provides an early diagnostic opportunity to determine whether the fetus is affected by these conditions, which are associated with severe muscle degeneration, loss of ambulation, and cardiac complications. It aids in the decision-making process for families with a known history of DMD or BMD mutations.
Special Instructions
A copy of the family member's test result documenting the known familial variant is required for test order. Counseling and informed consent for genetic testing are recommended and necessary for New York patients. The Fetal Molecular Testing Patient History Form and Informed Consent for Genetic Testing are required for test submission. If ARUP receives a sample below the minimum confluence, additional charges may apply for Cytogenetics Grow and Send.
Limitations
The test is limited to detecting large exonic deletions or duplications in the DMD gene using MLPA. It cannot identify point mutations, small indels, or intronic mutations. Single exon deletions or duplications may not be detected depending on breakpoint positions. Deep intronic or regulatory region mutations are also not identifiable, and breakpoint mapping for large deletions/duplications is not performed. Diagnostic errors due to rare sequence variations are possible, necessitating further genetic consultation.
Methodology
Other
Biomarkers
LOINC Codes
- 21247-2
- 59266-7
- 66746-9
- 21247-2
Result Turnaround Time
9-10 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
one T-25 flask at 80 percent confluence
Container
two T-25 flasks at 80 percent confluence
Collection Instructions
Backup cultures must be retained at the client's institution until testing is complete. Critical room temperature; must be received within 48 hours due to cell viability.
Storage Instructions
Critical room temperature
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 2 days |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |