- Genetic tests
- Myopathy (gene panel)
Myopathy (gene panel)
Full name: |
Myopathy (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
11 Dec 2020 - 09:55
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Changed: |
22 Jun 2022 - 11:04
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URL: |
- ABHD5
- ACAD9
- ACADM
- ACADS
- ACADVL
- ACTA1
- ACTN2
- ADSS1
- AGK
- AGL
- AGRN
- ALDOA
- ALG14
- ALG2
- ANO5
- ANXA11
- ASCC1
- ATP1A2
- ATP2A1
- B3GALNT2
- B4GAT1
- BAG3
- BIN1
- BVES
- CACNA1S
- CAP2
- CAPN3
- CASQ1
- CAV3
- CAVIN1
- CFL2
- CHAT
- CHD7
- CHKB
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- CLCN1
- CNBP
- COL12A1
- COL13A1
- COL25A1
- COL6A1
- COL6A2
- COL6A3
- COLQ
- COX6A2
- CPT2
- CRPPA
- CRYAB
- DAG1
- DCST2
- DES
- DGUOK
- DMD
- DMPK
- DNAJB6
- DNM2
- DNMT3B
- DOK7
- DPAGT1
- DPM2
- DPM3
- DYSF
- EMD
- ENO3
- ETFA
- ETFDH
- FAM111B
- FDX2
- FHL1
- FKRP
- FKTN
- FLAD1
- FLNC
- FXR1
- GAA
- GBE1
- GFER
- GFPT1
- GGPS1
- GMPPB
- GNE
- GYG1
- GYS1
- HACD1
- HADH
- HADHA
- HADHB
- HNRNPA1
- HNRNPA2B1
- HNRNPDL
- INPP5K
- ISCU
- ITGA7
- ITGA9
- JAG2
- KBTBD13
- KCNJ2
- KIF21A
- KLHL40
- KLHL41
- KLHL9
- KY
- LAMA2
- LAMB2
- LAMP2
- LARGE1
- LDB3
- LDHA
- LIMS2
- LMNA
- LMOD3
- LPIN1
- LRP4
- MAP3K20
- MATR3
- MB
- MEGF10
- MICU1
- MLIP
- MSTO1
- MTM1
- MUSK
- MYBPC1
- MYBPC3
- MYH14
- MYH2
- MYH3
- MYH7
- MYL1
- MYL2
- MYMX
- MYO18B
- MYO9A
- MYOD1
- MYOT
- MYPN
- NEB
- NPL
- OPA1
- ORAI1
- PABPN1
- PAX7
- PFKM
- PGAM2
- PGK1
- PGM1
- PHKA1
- PHKB
- PHOX2A
- PLEC
- PNPLA2
- PNPLA8
- POGLUT1
- POLG
- POLG2
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- POPDC3
- PREPL
- PRKAG2
- PYGM
- PYROXD1
- RAPSN
- RBCK1
- RXYLT1
- RYR1
- SCN4A
- SELENON
- SGCA
- SGCB
- SGCD
- SGCG
- SIL1
- SLC18A3
- SLC22A5
- SLC25A20
- SLC25A4
- SLC5A7
- SMCHD1
- SMPX
- SPEG
- SQSTM1
- STAC3
- STIM1
- SVIL
- SYNE1
- SYNE2
- SYT2
- TCAP
- TIA1
- TK2
- TMEM126B
- TMEM43
- TNNC2
- TNNI2
- TNNT1
- TNNT3
- TNPO3
- TNXB
- TOP3A
- TOR1AIP1
- TPI1
- TPM2
- TPM3
- TRAPPC11
- TRDN
- TRIM32
- TRIP4
- TRMT5
- TTN
- TUBB3
- TWNK
- UNC45B
- VAMP1
- VCP
- VMA21
- VWA1
-
Myopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.64 1 ACAD9 99.97 1 ACADM 99.64 1 ACADS 100.00 1 ACADVL 99.94 1 ACTA1 99.99 1 ACTN2 99.96 1 ADSS1 99.99 1 AGK 99.98 1 AGL 99.92 1 AGRN 99.83 1 ALDOA 100.00 1 ALG14 99.97 1 ALG2 99.95 1 ANO5 99.96 1 ANXA11 99.88 1 ASCC1 91.38 1 ATP1A2 99.96 1 ATP2A1 99.97 1 B3GALNT2 94.03 1 B4GAT1 99.95 1 BAG3 100.00 1 BIN1 100.00 1 BVES 99.97 1 CACNA1S 99.92 1 CAP2 99.97 1 CAPN3 99.98 1 CASQ1 99.91 1 CAV3 99.85 1 CAVIN1 99.99 1 CFL2 99.81 1 CHAT 99.77 1 CHD7 99.96 1 CHKB 99.89 1 CHRNA1 99.96 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 99.95 1 CHRNG 99.87 1 CLCN1 99.97 1 CNBP 99.97 1 COL12A1 99.95 1 COL13A1 99.56 1 COL25A1 99.96 1 COL6A1 100.00 1 COL6A2 99.96 1 COL6A3 99.99 1 COLQ 99.97 1 COX6A2 98.51 1 CPT2 99.99 1 CRPPA 99.59 1 CRYAB 99.98 1 DAG1 100.00 1 DCST2 99.92 1 DES 100.00 1 DGUOK 99.76 1 DMD 99.41 1 DMPK 99.98 1 DNAJB6 99.91 1 DNM2 99.96 1 DNMT3B 99.98 1 DOK7 99.73 1 DPAGT1 99.96 1 DPM2 100.00 1 DPM3 100.00 1 DYSF 99.99 1 EMD 97.92 1 ENO3 99.98 1 ETFA 99.84 1 ETFDH 99.76 1 FAM111B 99.99 1 FDX2 99.94 1 FHL1 99.92 1 FKRP 99.99 1 FKTN 99.91 1 FLAD1 100.00 1 FLNC 99.99 1 FXR1 99.81 1 GAA 99.99 1 GBE1 99.84 1 GFER 99.96 1 GFPT1 99.90 1 GGPS1 99.89 1 GMPPB 99.95 1 GNE 99.98 1 GYG1 99.97 1 GYS1 99.98 1 HACD1 99.78 1 HADH 99.97 1 HADHA 99.96 1 HADHB 99.97 1 HNRNPA1 100.00 1 HNRNPA2B1 99.95 1 HNRNPDL 99.92 1 INPP5K 99.99 1 ISCU 99.94 1 ITGA7 99.98 1 ITGA9 99.80 1 JAG2 98.50 1 KBTBD13 100.00 1 KCNJ2 100.00 1 KIF21A 99.80 1 KLHL40 100.00 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 98.80 1 LAMA2 99.97 1 LAMB2 99.99 1 LAMP2 98.98 1 LARGE1 99.99 1 LDB3 98.02 1 LDHA 99.77 1 LIMS2 99.65 1 LMNA 99.98 1 LMOD3 99.96 1 LPIN1 99.97 1 LRP4 99.98 1 MAP3K20 99.92 1 MATR3 99.87 1 MB 99.99 1 MEGF10 99.90 1 MICU1 99.98 1 MLIP 99.94 1 MSTO1 98.87 1 MTM1 99.36 1 MUSK 99.97 1 MYBPC1 99.90 1 MYBPC3 99.98 1 MYH14 99.79 1 MYH2 99.97 1 MYH3 99.96 1 MYH7 100.00 1 MYL1 99.93 1 MYL2 99.98 1 MYMX 100.00 1 MYO18B 99.98 1 MYO9A 99.91 1 MYOD1 99.82 1 MYOT 99.98 1 MYPN 99.97 1 NEB 99.77 1 NPL 99.95 1 OPA1 99.87 1 ORAI1 97.73 1 PABPN1 99.67 1 PAX7 99.96 1 PFKM 99.82 1 PGAM2 100.00 1 PGK1 99.71 1 PGM1 99.89 1 PHKA1 99.57 1 PHKB 99.79 1 PHOX2A 96.75 1 PLEC 99.98 1 PNPLA2 99.99 1 PNPLA8 99.81 1 POGLUT1 99.91 1 POLG 99.98 1 POLG2 99.68 1 POMGNT1 99.98 1 POMGNT2 100.00 1 POMK 99.98 1 POMT1 99.91 1 POMT2 99.93 1 POPDC3 99.93 1 PREPL 99.96 1 PRKAG2 99.92 1 PYGM 99.98 1 PYROXD1 99.83 1 RAPSN 99.99 1 RBCK1 99.99 1 RXYLT1 99.53 1 RYR1 99.92 1 SCN4A 99.77 1 SELENON 95.81 1 SGCA 99.99 1 SGCB 99.62 1 SGCD 99.94 1 SGCG 99.87 1 SIL1 99.99 1 SLC18A3 100.00 1 SLC22A5 99.99 1 SLC25A20 99.90 1 SLC25A4 99.96 1 SLC5A7 99.97 1 SMCHD1 99.82 1 SMPX 99.37 1 SPEG 99.97 1 SQSTM1 100.00 1 STAC3 99.94 1 STIM1 99.97 1 SVIL 99.94 1 SYNE1 99.96 1 SYNE2 99.85 1 SYT2 99.89 1 TCAP 100.00 1 TIA1 99.56 1 TK2 99.99 1 TMEM126B 99.68 1 TMEM43 99.98 1 TNNC2 99.95 1 TNNI2 100.00 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.95 1 TNXB 99.95 1 TOP3A 99.95 1 TOR1AIP1 99.84 1 TPI1 99.95 1 TPM2 99.93 1 TPM3 99.95 1 TRAPPC11 99.59 1 TRDN 99.03 1 TRIM32 100.00 1 TRIP4 99.91 1 TRMT5 99.83 1 TTN 99.96 1 TUBB3 100.00 1 TWNK 100.00 1 UNC45B 99.93 1 VAMP1 99.70 1 VCP 99.92 1 VMA21 97.04 1 VWA1 91.35 1