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

Clinical Use

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

Not provided.

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.

Test Details

Methodology

Other

Biomarkers

DMD

Gene

Exon Deletion/Duplication

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

21247-2 - DMD gene Mut Anl Bld/T
59266-7 - Maternal Cell Contam Spec
66746-9 - Specimen type

Result Codes

21247-2 - DMD gene Mut Anl Bld/T

Result Turnaround Time

9-10 days

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.