The majority (2/3) of dystrophin mutations are exon(s) deletion or duplication. The MLPA test is expected to have greater sensitivity and specificity than quantitative multiplex PCR for detection of deletions or duplications for all the exons. Approximately one-third of dystrophin mutations are sequence alterations. We do not offer DMD sequencing as a stand alone test, but as part of a muscular dystrophy sequencing panel including 9 other genes: CAPN3, CAV3, FKRP, LMNA, SCGA, SCGB, SCGD, SCGG, and TRIM32.
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The majority of cases are due to a deletion/duplication of DMD. Deletion/duplication of DMD should be ordered first. If del/dup is negative, then the muscular dystrophy sequencing panel may be considered as it includes sequencing of the DMD gene, but also other genes that cause other types of muscular dystrophy.
If there are questions regarding this test, please contact Client Services at 617-553-5880 or email@example.com