Panel 28 · Neuromuscular
Muscular Dystrophy Core Panel
Core panel for muscular dystrophies and congenital myopathies.
Gene content
All 118 gene symbols in source order
- ABHD5
- ACADVL
- ACTA1
- ACTN2
- AGL
- AHCY
- ANO5
- ATP2A1
- B3GALNT2
- B4GAT1
- BAG3
- BUB1
- BUB1B
- CAPN3
- CAV3
- CAVIN1
- CEP57
- CHKB
- CHRND
- CLCN1
- COL4A1
- COL4A2
- COL6A1
- COL6A2
- COL6A3
- COLQ
- CPT2
- CRYAB
- DAG1
- DES
- DMD
- DMPK
- DNAJB6
- DNM2
- DOK7
- DOLK
- DPM1
- DPM2
- DPM3
- DTNA
- DYSF
- EMD
- ETFDH
- FHL1
- FKRP
- FKTN
- FLNC
- GAA
- GBE1
- GFPT1
- GK
- GMPPB
- GNE
- GOSR2
- GYG1
- HMGCR
- ISPD
- ITGA7
- ITGB4
- JAG2
- LAMA2
- LAMP2
- LARGE1
- LMNA
- LPIN1
- MATR3
- MICU1
- MSTO1
- MTM1
- MYH14
- MYH7
- MYOT
- NEB
- NPPA
- NR0B1
- ORAI1
- PABPN1
- PFKM
- PGK1
- PHKA1
- PLEC
- PNKP
- PNPLA2
- POLG
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PYGM
- RAPSN
- RXYLT1
- RYR1
- SCN4A
- SCN5A
- SELENON
- SGCA
- SGCB
- SGCD
- SGCG
- SIL1
- SMCHD1
- SMN1
- STIM1
- SYNE1
- SYNE2
- TCAP
- TK2
- TMEM43
- TNNT3
- TNPO3
- TPM2
- TPM3
- TRIM32
- TRIP13
- TTN
- VCP
- VMA21
Gene symbols are reproduced from the department’s current NGS panel source document (PANEL LİSTESİ V9), in source order. No symbol has been added, removed, renamed or expanded, and none has been reconciled against an earlier edition of the catalogue or against an external gene database. Panel titles, gene counts and gene content are published as confirmed by the department. Panel composition may be revised; the version in force at the time of testing applies.