- Genetic tests
- Neuromuscular disorders (gene panel)
Neuromuscular disorders (gene panel)
Full name: |
Neuromuscular disorders (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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Accreditation (ISO 15189): |
2021-09-11 / 2026-09-10
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
31 Jul 2019 - 14:35
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Changed: |
16 Dec 2022 - 12:43
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- ABHD5
- ACAD9
- ACADL
- ACADM
- ACADS
- ACADVL
- ACTA1
- ACTN2
- ACVR1
- ADCY6
- ADGRG6
- ADSS1
- AGL
- AGRN
- ALDOA
- ALG13
- ALG14
- ALG2
- AMPD1
- ANO5
- APOO
- ASAH1
- ASCC1
- ASPH
- ATP2A1
- B3GALNT2
- B4GAT1
- BAG3
- BET1
- BIN1
- BSCL2
- BVES
- CACNA1H
- CACNA1S
- CAPN3
- CASQ1
- CAV3
- CAVIN1
- CCDC78
- CFH
- CFL2
- CHAT
- CHCHD10
- CHKB
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- CLCN1
- CLN3
- CLPP
- CNTN1
- COL12A1
- COL13A1
- COL4A1
- COL6A1
- COL6A2
- COL6A3
- COL9A3
- COLQ
- CORIN
- CPT2
- CRPPA
- CRYAB
- DAG1
- DES
- DGUOK
- DHX16
- DMD
- DMPK
- DNAJB6
- DNM2
- DNMT3B
- DOK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DYSF
- ECEL1
- EMD
- ENO3
- EPG5
- ETFA
- ETFB
- ETFDH
- FAM111B
- FDX2
- FKBP14
- FKRP
- FKTN
- FLAD1
- FLNC
- FXR1
- GAA
- GBE1
- GFER
- GFPT1
- GGPS1
- GLDN
- GLE1
- GMPPB
- GNE
- GOLGA2
- GOSR2
- GYG1
- GYS1
- HACD1
- HADHA
- HADHB
- HEXB
- HNRNPA1
- HNRNPA2B1
- HNRNPDL
- HRAS
- HSPB1
- HSPB3
- HSPB8
- HSPG2
- HTRA2
- INPP5K
- ISCU
- ITGA7
- KBTBD13
- KLHL40
- KLHL41
- KLHL9
- KY
- LAMA2
- LAMA5
- LAMB2
- LAMP2
- LARGE1
- LARS2
- LAS1L
- LDB3
- LDHA
- LGI4
- LIMS2
- LMNA
- LMOD3
- LOXL4
- LPIN1
- LRIF1
- MAP3K20
- MB
- MCOLN1
- MEGF10
- MET
- MICU1
- MPDU1
- MRPS25
- MSTN
- MSTO1
- MTM1
- MTMR14
- MUSK
- MYBPC1
- MYBPC3
- MYF5
- MYH2
- MYH3
- MYH7
- MYH7B
- MYH8
- MYL1
- MYL2
- MYMK
- MYO18B
- MYO9A
- MYOT
- MYPN
- NEB
- NEFL
- ORAI1
- PABPN1
- PAX7
- PEX6
- PFKM
- PGAM2
- PGK1
- PGM1
- PHKA1
- PHKB
- PIEZO2
- PLEC
- PNPLA2
- PNPLA8
- POGLUT1
- POLG
- POLG2
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- POPDC3
- PREPL
- PRKAG2
- PTRH2
- PUS1
- PYGM
- PYROXD1
- RAPSN
- RBCK1
- RRM2B
- RXYLT1
- RYR1
- RYR3
- SCN4A
- SELENON
- SGCA
- SGCB
- SGCD
- SGCG
- SIL1
- SLC16A1
- SLC18A3
- SLC22A5
- SLC25A1
- SLC25A20
- SLC25A4
- SLC25A42
- SLC5A7
- SMCHD1
- SMPX
- SNAP25
- SPEG
- SPTBN4
- SQSTM1
- STAC3
- STIM1
- SUCLA2
- SVIL
- SYNE1
- SYNE2
- SYT2
- TARDBP
- TCAP
- TFAM
- TIA1
- TIMM22
- TK2
- TMEM43
- TMEM65
- TNNC2
- TNNI2
- TNNT1
- TNNT3
- TNPO3
- TNXB
- TOR1AIP1
- TPM2
- TPM3
- TRAPPC11
- TRIM32
- TRIM54
- TRIP4
- TSEN54
- TSFM
- TTN
- TYMP
- UNC45B
- VAMP1
- VCP
- VMA21
- VPS33B
- YARS2
- ZBTB42
- ZC4H2
-
Neuromuscular disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.98 1 ACAD9 100.00 1 ACADL 99.11 1 ACADM 96.14 1 ACADS 99.99 1 ACADVL 100.00 1 ACTA1 99.99 1 ACTN2 99.99 1 ACVR1 99.94 1 ADCY6 99.98 1 ADGRG6 99.91 1 ADSS1 99.99 1 AGL 97.67 1 AGRN 99.99 1 ALDOA 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 AMPD1 98.94 1 ANO5 99.85 1 APOO 99.69 1 ASAH1 99.90 1 ASCC1 90.99 1 ASPH 99.92 1 ATP2A1 99.83 1 B3GALNT2 92.79 1 B4GAT1 100.00 1 BAG3 100.00 1 BET1 99.38 1 BIN1 99.98 1 BSCL2 99.99 1 BVES 99.83 1 CACNA1H 100.00 1 CACNA1S 99.96 1 CAPN3 99.99 1 CASQ1 99.62 1 CAV3 100.00 1 CAVIN1 100.00 1 CCDC78 100.00 1 CFL2 99.67 1 CHAT 99.74 1 CHCHD10 100.00 1 CHKB 100.00 1 CHRNA1 99.82 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 100.00 1 CHRNG 100.00 1 CLCN1 100.00 1 CLN3 99.92 1 CLPP 99.99 1 CNTN1 99.35 1 COL12A1 99.85 1 COL13A1 99.95 1 COL4A1 99.99 1 COL6A1 99.99 1 COL6A2 100.00 1 COL6A3 99.99 1 COL9A3 99.99 1 COLQ 99.98 1 CPT2 99.65 1 CRPPA 99.98 1 CRYAB 100.00 1 DAG1 100.00 1 DES 100.00 1 DGUOK 99.93 1 DHX16 99.98 1 DMD 99.76 1 DMPK 99.93 1 DNAJB6 99.97 1 DNM2 99.99 1 DNMT3B 99.98 1 DOK7 99.97 1 DOLK 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPM3 99.98 1 DYSF 99.95 1 ECEL1 100.00 1 EMD 99.93 1 ENO3 100.00 1 EPG5 99.95 1 ETFA 99.88 1 ETFB 100.00 1 ETFDH 99.82 1 FAM111B 99.98 1 FDX2 99.99 1 CFH 99.97 1 FKBP14 99.97 1 FKRP 100.00 1 FKTN 99.94 1 FLAD1 99.98 1 FLNC 99.99 1 FXR1 99.82 1 GAA 100.00 1 GBE1 99.73 1 GFER 100.00 1 GFPT1 99.79 1 GGPS1 99.95 1 GLDN 99.98 1 GLE1 99.99 1 GMPPB 100.00 1 GNE 99.99 1 GOLGA2 100.00 1 GOSR2 98.92 1 GYG1 99.85 1 GYS1 99.98 1 HACD1 99.98 1 HADHA 99.98 1 HADHB 99.82 1 HEXB 99.91 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 HNRNPDL 99.98 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HTRA2 99.99 1 INPP5K 99.94 1 ISCU 99.74 1 ITGA7 99.87 1 KBTBD13 100.00 1 KLHL40 99.96 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 99.97 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMB2 99.99 1 LAMP2 98.95 1 LARGE1 100.00 1 LARS2 99.96 1 LAS1L 99.97 1 LDB3 99.91 1 LDHA 99.94 1 LGI4 99.98 1 LIMS2 99.97 1 LMNA 99.96 1 LMOD3 99.91 1 LOXL4 99.92 1 LPIN1 99.96 1 LRIF1 99.82 1 CORIN 99.89 1 MAP3K20 99.84 1 MB 99.99 1 MCOLN1 100.00 1 MEGF10 99.91 1 MET 99.97 1 MICU1 99.56 1 MPDU1 99.97 1 MRPS25 99.97 1 MSTN 99.96 1 MSTO1 76.34 1 MTM1 99.76 1 MTMR14 99.99 1 MUSK 99.93 1 MYBPC1 99.77 1 MYBPC3 99.98 1 MYF5 99.99 1 MYH7B 99.98 1 MYH2 99.98 1 MYH3 99.99 1 MYH7 99.99 1 MYH8 100.00 1 MYL1 99.75 1 MYL2 99.99 1 MYMK 99.88 1 MYO18B 99.98 1 MYO9A 99.93 1 MYOT 99.93 1 MYPN 99.88 1 NEB 87.33 1 NEFL 100.00 1 ORAI1 99.63 1 PABPN1 99.99 1 PAX7 99.83 1 PEX6 99.99 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKB 99.69 1 PIEZO2 98.45 1 PLEC 100.00 1 PNPLA2 100.00 1 PNPLA8 99.92 1 POGLUT1 99.99 1 POLG 100.00 1 POLG2 99.51 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 POPDC3 99.96 1 PREPL 99.63 1 PRKAG2 99.96 1 PTRH2 99.99 1 PUS1 100.00 1 PYGM 99.96 1 PYROXD1 99.77 1 RAPSN 99.97 1 RBCK1 100.00 1 RRM2B 99.97 1 RXYLT1 99.48 1 RYR1 99.97 1 RYR3 99.98 1 SCN4A 99.98 1 SELENON 93.61 1 SGCA 100.00 1 SGCB 99.95 1 SGCD 100.00 1 SGCG 99.99 1 SIL1 99.95 1 SLC16A1 99.26 1 SLC18A3 99.99 1 SLC22A5 99.99 1 SLC25A1 99.93 1 SLC25A20 100.00 1 SLC25A4 100.00 1 SLC25A42 99.99 1 SLC5A7 99.57 1 SMCHD1 99.83 1 SMPX 99.80 1 SNAP25 99.89 1 SPEG 99.99 1 SPTBN4 99.91 1 SQSTM1 100.00 1 STAC3 99.91 1 STIM1 99.99 1 SUCLA2 99.96 1 SVIL 99.98 1 SYNE1 99.95 1 SYNE2 99.95 1 SYT2 99.93 1 TARDBP 100.00 1 TCAP 100.00 1 TFAM 99.24 1 TIA1 99.72 1 TIMM22 100.00 1 TK2 99.96 1 TMEM43 99.96 1 TMEM65 99.93 1 TNNC2 99.99 1 TNNI2 99.99 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.96 1 TNXB 90.86 1 TOR1AIP1 98.45 1 TPM2 100.00 1 TPM3 83.21 1 TRAPPC11 99.93 1 TRIM32 100.00 1 TRIM54 89.88 1 TRIP4 99.97 1 TSEN54 100.00 1 TSFM 100.00 1 TTN 99.15 1 TYMP 99.87 1 UNC45B 100.00 1 VAMP1 100.00 1 VCP 99.99 1 VMA21 99.90 1 VPS33B 99.95 1 YARS2 99.93 1 ZBTB42 100.00 1 ZC4H2 99.98 1