| |
Congenital
Muscular Dystrophy |
| |
MDC1A:
LAMA2 Exon Sequencing |
| |
MDC1C:
FKRP Exon Sequencing |
| |
MDC1D:
LARGE Exon Sequencing |
| |
FCMD:
FKTN Exon Sequencing |
| |
FCMD: Japanese
founder mutation PCR |
|
|
MEB:
POMGnT1 Exon Sequencing |
|
|
MEB:
POMT2 Exon Sequencing |
| |
Walker-Warburg Syndrome: Dystroglycanopathy
Sequential Panel (FKRP, FKTN, POMT1, POMT2, POMGnT1, LARGE) |
| |
|
| |
Limb
Girdle Muscular Dystrophy |
| |
LGMD1B:
LMNA Exon Sequencing |
| |
LGMD2A:
CAPN3 Exon Sequencing |
| |
LGMD2B:
DYSF Exon Sequencing |
| |
LGMD2D:
SGCA Exon Sequencing |
| |
LGMD2E:
SGCB Exon Sequencing |
| |
LGMD2F:
SGCE Exon Sequencing |
| |
LGMD2I:
FKRP Exon Sequencing |
| |
LGMD2K:
POMT1 Exon Sequencing |
| |
LGMD2M:
FKTN Exon Sequencing |
| |
LGMD-MR:
POMT2 Exon Sequencing |
| |
|
| |
Other
Myopathies |
| |
alpha-Actin (Skeletal Muscle Form)-Related Myopathies: ACTA1 Sequencing |
| |
Nemaline
Myopathy: NEB Exon Sequencing |
| |
Nemaline
Myopathy: NEB Exon 55 Deletion |
| |
SEPN1
Exon Sequencing |
| |
TPM3-Related
Myopathies: TPM3 Exon Sequencing |
| |
RYR1-Related
Myopathies: RYR1 Exon Sequencing |
