Panel 57 · Neuromuscular
Myopathy Panel
Congenital, metabolic, distal and myofibrillar myopathies.
Gene content
All 154 gene symbols in source order
- ABCD3
- ACTA1
- ACTN2
- ALG14
- AMPD1
- B3GALNT2
- CACNA1S
- CPT2
- DPM3
- FLAD1
- LMNA
- NOTCH2NLC
- PAX7
- POMGNT1
- SELENON
- TPM3
- ASCC1
- BAG3
- LDB3
- MICU1
- MYPN
- TWNK
- ANO5
- B4GAT1
- CRYAB
- LDHA
- MYBPC3
- MYOD1
- PNPLA2
- PYGM
- STIM1
- TNNI2
- TNNT3
- CNTN1
- HSPB8
- ISCU
- ITGA7
- MYBPC1
- MYF5
- MYL2
- ORAI1
- PFKM
- PUS1
- RXYLT1
- YARS2
- SGCG
- SUCLA2
- CFL2
- JAG2
- MYH7
- PABPN1
- POMT2
- SYNE2
- CAPN3
- KBTBD13
- POLG
- ALDOA
- ATP2A1
- CCDC78
- GFER
- MYH11
- TK2
- ACADVL
- ENO3
- GAA
- MYH2
- MYH3
- SCN4A
- SGCA
- TCAP
- SMCHD1
- DMPK
- DNM2
- FKRP
- GYS1
- RYR1
- TNNT1
- BIN1
- COL6A3
- DES
- DGUOK
- DYSF
- LPIN1
- MYL1
- NEB
- SPEG
- TTN
- COL9A3
- DPM1
- COL6A1
- COL6A2
- CHKB
- LARGE1
- ABHD5
- CAV3
- CNBP
- DAG1
- GBE1
- GMPPB
- GYG1
- MTMR14
- POMGNT2
- TMEM43
- COL25A1
- DOK7
- ETFDH
- LETM1
- PPA2
- SGCB
- SLC25A4
- HMGCR
- MATR3
- MEGF10
- MYOT
- SGCD
- SQSTM1
- ASCC3
- DST
- LAMA2
- SYNE1
- TRDN
- DNAJB6
- FKBP14
- FLNC
- HSPB1
- ISPD
- PGAM2
- TNPO3
- NEFL
- PLEC
- POMK
- RRM2B
- DPM2
- FKTN
- GNE
- KLHL9
- POMT1
- SPTAN1
- TPM2
- TRIM32
- VCP
- MT-TA
- MT-TG
- MT-TP
- AR
- DMD
- EMD
- FHL1
- LAMP2
- MTM1
- PHKA1
- SMPX
- VMA21
- ZC4H2
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.