- Genetic tests
- Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
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Description: |
ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ACVR1, ADSSL1, AGL, AGRN, ALDOA, ALG13, ALG14, ALG2, AMPD1, ANO5, ATP1A2, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CACNA1A, CACNA1H, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DCST2, DES, DMD, DMPK, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, ECEL1, EMD, ENO3, ETFA, ETFB, ETFDH, EXOSC3, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GBE1, GFPT1, GGPS1, GMPPB, GNE, GOLGA2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HINT1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB8, HSPG2, INPP5K, ISCU, ISPD = CRPPA, ITGA7, KBTBD13, KCNA1, KCNE3, KCNJ18, KCNJ2, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MB, MEGF10, MSTN, MTM1, MTMR14, MUSK, MYBPC1, MYBPC3, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, OPA1, ORAI1, P4HA1, PABPN1, PAX7, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PREPL, PRKAG2, PYGM, PYROXD1, RAPSN, RBCK1, RXYLT1, RYR1, RYR3, SBDS, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC18A3, SLC22A5, SLC25A20, SLC5A7, SMCHD1, SNAP25, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, SYNE1, SYNE2, SYT2, TAZ, TCAP, TIA1, TK2, TMEM126B, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOP3A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TRIM63, TRIP4, TSEN54, TTN, UNC45B, VAMP1, VCP, VMA21 |
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: | |
Turnaround time (maximum): |
6 - 9 months
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Document(s): | |
Created: |
22 Jul 2019 - 10:29
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Changed: |
19 Oct 2021 - 09:20
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URL: |
- ABHD5
- ACAD9
- ACADL
- ACADM
- ACADS
- ACADVL
- ACTA1
- ACTN2
- ACVR1
- ADSS1
- AGL
- AGRN
- ALDOA
- ALG13
- ALG14
- ALG2
- AMPD1
- ANO5
- ATP1A2
- ATP2A1
- B3GALNT2
- B4GAT1
- BAG3
- BIN1
- BVES
- CACNA1A
- CACNA1H
- CACNA1S
- CAPN3
- CASQ1
- CAV3
- CAVIN1
- CCDC78
- CFH
- CFL2
- CHAT
- CHD8
- CHKB
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- CLCN1
- CNTN1
- COL12A1
- COL13A1
- COL6A1
- COL6A2
- COL6A3
- COLQ
- CORIN
- CPT2
- CRPPA
- CRYAB
- DAG1
- DCST2
- DES
- DMD
- DMPK
- DNA2
- DNAJB6
- DNM2
- DOK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DYSF
- ECEL1
- EMD
- ENO3
- ETFA
- ETFB
- ETFDH
- EXOSC3
- FKBP14
- FKRP
- FKTN
- FLAD1
- FLNC
- FXR1
- GAA
- GBE1
- GFPT1
- GGPS1
- GMPPB
- GNE
- GOLGA2
- GYG1
- GYS1
- HACD1
- HADH
- HADHA
- HADHB
- HINT1
- HNRNPA1
- HNRNPA2B1
- HNRNPDL
- HRAS
- HSPB1
- HSPB8
- HSPG2
- INPP5K
- ISCU
- ITGA7
- KBTBD13
- KCNA1
- KCNE3
- KCNJ18
- KCNJ2
- KLHL40
- KLHL41
- KLHL9
- KY
- LAMA2
- LAMA5
- LAMB2
- LAMP2
- LARGE1
- LDB3
- LDHA
- LIMS2
- LMNA
- LMOD3
- LPIN1
- MAP3K20
- MATR3
- MB
- MED12
- MEGF10
- MSTN
- MTM1
- MTMR14
- MUSK
- MYBPC1
- MYBPC3
- MYF6
- MYH2
- MYH3
- MYH7
- MYH7B
- MYH8
- MYL1
- MYL2
- MYMK
- MYO18B
- MYO9A
- MYOT
- MYPN
- NEB
- ORAI1
- P4HA1
- PABPN1
- PAX7
- PDHA1
- PFKM
- PGAM2
- PGK1
- PGM1
- PHKA1
- PHKB
- PLEC
- PNPLA2
- PNPLA8
- POGLUT1
- POLG
- POLG2
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- POPDC3
- PREPL
- PRKAG2
- PYGM
- PYROXD1
- RAPSN
- RBCK1
- RXYLT1
- RYR1
- RYR3
- SBDS
- SCN4A
- SELENON
- SGCA
- SGCB
- SGCD
- SGCG
- SIL1
- SLC16A1
- SLC18A3
- SLC22A5
- SLC25A20
- SLC5A7
- SMCHD1
- SNAP25
- SPEG
- SPTBN4
- SQSTM1
- STAC3
- STIM1
- SYNE1
- SYNE2
- SYT2
- TCAP
- TIA1
- TK2
- TMEM126B
- TMEM43
- TNNI2
- TNNT1
- TNNT3
- TNPO3
- TOP3A
- TOR1AIP1
- TPM2
- TPM3
- TRAPPC11
- TRDN
- TRIM32
- TRIM63
- TRIP4
- TSEN54
- TTN
- UNC45B
- VAMP1
- VCP
- VMA21
- WWTR1
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Neuromuscular disorders (232 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 88.70 0 NM_001271208.1 SELENON 92.30 0 NM_020451.2 TSEN54 97.70 0 NM_207346.2 DOK7 97.90 0 NM_173660.4 ORAI1 97.90 0 NM_032790.3 CRPPA 98.60 0 NM_001101426.3 PGAM2 98.80 0 NM_000290.3 AGRN 99.00 0 NM_198576.3 HSPB1 99.00 0 NM_001540.4 POMT2 99.00 0 NM_013382.5 CACNA1H 99.10 0 NM_021098.2 RYR1 99.10 0 NM_000540.2 SPTBN4 99.30 0 NM_020971.2 TNNT1 99.50 0 NM_003283.5 HSPG2 99.50 0 NM_005529.6 CAPN3 99.60 0 NM_000070.2 GMPPB 99.60 0 NM_013334.3 ACADVL 99.60 0 NM_000018.3 LAMA5 99.60 0 NM_005560.4 B3GALNT2 99.70 0 NM_152490.4 SCN4A 99.70 0 NM_000334.4 ISCU 99.70 0 NM_213595.3 MATR3 99.70 0 NM_199189.2 SLC16A1 99.80 0 NM_003051.3 COL6A1 99.80 0 NM_001848.2 CHD8 99.80 0 NM_001170629.1 RAPSN 99.80 0 NM_005055.4 CACNA1A 99.80 0 NM_001127221.1 MYH7B 99.80 0 NM_024729.3 DCST2 99.80 0 NM_144622.2 CHRNE 99.80 0 NM_000080.3 SGCG 99.90 0 NM_000231.2 DYSF 99.90 0 NM_003494.3 MYL2 99.90 0 NM_000432.3 CHRNA1 99.90 0 NM_000079.3 ECEL1 99.90 0 NM_004826.3 PNPLA2 99.90 0 NM_020376.3 FXR1 99.90 0 NM_005087.3 TTN 99.90 0 NM_133378.4 PNPLA8 99.90 0 NM_015723.4 ATP2A1 99.90 0 NM_173201.3 COL6A2 99.90 0 NM_001849.3 MYBPC3 99.90 0 NM_000256.3 VCP 99.90 0 NM_007126.4 TRDN 99.90 0 NM_006073.3 GYS1 99.90 0 NM_002103.4 ALG13 99.90 0 NM_001099922.2 MYO18B 99.90 0 NM_032608.6 TK2 99.90 0 NM_004614.4 PHKB 99.90 0 NM_000293.2 SYT2 99.90 0 NM_177402.4 LDHA 99.90 0 NM_005566.3 LMNA 99.90 0 NM_170707.3 CFL2 99.90 0 NM_021914.7 TIA1 100.00 0 NM_022173.3 MYF6 100.00 0 NM_002469.2 KCNJ18 100.00 0 NM_001194958.2 DPM1 100.00 0 NM_003859.2 HNRNPDL 100.00 0 NM_031372.3 TPM2 100.00 0 NM_003289.3 CACNA1S 100.00 0 NM_000069.2 FLNC 100.00 0 NM_001458.4 CHRNB1 100.00 0 NM_000747.2 CCDC78 100.00 0 NM_001031737.2 ETFA 100.00 0 NM_000126.3 DNAJB6 100.00 0 NM_058246.3 DMPK 100.00 0 NM_001081563.2 CORIN 100.00 0 NM_002334.3 HACD1 100.00 0 NM_014241.3 EMD 100.00 0 NM_000117.2 TRIP4 100.00 0 NM_016213.4 MYL1 100.00 0 NM_079420.2 ETFDH 100.00 0 NM_004453.3 FKRP 100.00 0 NM_024301.4 DNA2 100.00 0 NM_001080449.2 PLEC 100.00 0 NM_000445.4 PABPN1 100.00 0 NM_004643.3 SPEG 100.00 0 NM_005876.4 ITGA7 100.00 0 NM_002206.2 POMT1 100.00 0 NM_007171.3 GFPT1 100.00 0 NM_002056.3 SYNE1 100.00 0 NM_033071.3 LPIN1 100.00 0 NM_145693.3 ENO3 100.00 0 NM_053013.3 GOLGA2 100.00 0 NM_004486.4 CHKB 100.00 0 NM_005198.4 AMPD1 100.00 0 NM_000036.2 ACTA1 100.00 0 NM_001100.3 ACVR1 100.00 0 NM_001105.4 HADHB 100.00 0 NM_000183.2 KCNA1 100.00 0 NM_000217.2 ANO5 100.00 0 NM_213599.2 INPP5K 100.00 0 NM_016532.3 SMCHD1 100.00 0 NM_015295.2 ADSS1 100.00 0 NM_199165.2 TRIM63 100.00 0 NM_032588.3 COL13A1 100.00 0 NM_001130103.1 TOP3A 100.00 0 NM_004618.4 COL12A1 100.00 0 NM_004370.5 MYPN 100.00 0 NM_032578.3 SYNE2 100.00 0 NM_182914.2 ACTN2 100.00 0 NM_001103.3 PREPL 100.00 0 NM_006036.4 MYH3 100.00 0 NM_002470.3 SGCB 100.00 0 NM_000232.4 PHKA1 100.00 0 NM_002637.3 CLCN1 100.00 0 NM_000083.2 KBTBD13 100.00 0 NM_001101362.2 CHAT 100.00 0 NM_020549.4 AGL 100.00 0 NM_000642.2 MUSK 100.00 0 NM_005592.3 CASQ1 100.00 0 NM_001231.4 ACADS 100.00 0 NM_000017.3 PYGM 100.00 0 NM_005609.3 GAA 100.00 0 NM_000152.4 TRAPPC11 100.00 0 NM_021942.5 MYO9A 100.00 0 NM_006901.3 COL6A3 100.00 0 NM_004369.3 DMD 100.00 0 NM_004006.2 MYH7 100.00 0 NM_000257.3 MYBPC1 100.00 0 NM_002465.3 RYR3 100.00 0 NM_001036.4 ABHD5 100.00 0 NM_016006.5 ACAD9 100.00 0 NM_014049.4 ACADL 100.00 0 NM_001608.3 ACADM 100.00 0 NM_000016.5 ALDOA 100.00 0 NM_000034.3 ALG14 100.00 0 NM_144988.3 ALG2 100.00 0 NM_033087.3 ATP1A2 100.00 0 NM_000702.3 B4GAT1 100.00 0 NM_006876.2 BAG3 100.00 0 NM_004281.3 BIN1 100.00 0 NM_139343.2 BVES 100.00 0 NM_007073.4 CAV3 100.00 0 NM_033337.2 CAVIN1 100.00 0 NM_012232.5 CHRND 100.00 0 NM_000751.2 CHRNG 100.00 0 NM_005199.4 CNTN1 100.00 0 NM_001843.3 COLQ 100.00 0 NM_005677.3 CPT2 100.00 0 NM_000098.2 CRYAB 100.00 0 NM_001885.2 DAG1 100.00 0 NM_004393.5 DES 100.00 0 NM_001927.3 DNM2 100.00 0 NM_001005360.2 DOLK 100.00 0 NM_014908.3 DPAGT1 100.00 0 NM_001382.3 DPM2 100.00 0 NM_003863.3 DPM3 100.00 0 NM_153741.1 ETFB 100.00 0 NM_001985.2 EXOSC3 100.00 0 NM_016042.3 CFH 100.00 0 NM_001449.4 FKBP14 100.00 0 NM_017946.3 FKTN 100.00 0 NM_001079802.1 FLAD1 100.00 0 NM_025207.4 GBE1 100.00 0 NM_000158.3 GGPS1 100.00 0 NM_001037277.1 GNE 100.00 0 NM_001128227.2 GYG1 100.00 0 NM_004130.3 HADH 100.00 0 NM_005327.4 HADHA 100.00 0 NM_000182.4 HINT1 100.00 0 NM_005340.6 HNRNPA1 100.00 0 NM_031157.3 HNRNPA2B1 100.00 0 NM_031243.2 HRAS 100.00 0 NM_005343.3 HSPB8 100.00 0 NM_014365.2 KCNE3 100.00 0 NM_005472.4 KCNJ2 100.00 0 NM_000891.2 KLHL40 100.00 0 NM_152393.3 KLHL41 100.00 0 NM_006063.2 KLHL9 100.00 0 NM_018847.3 KY 100.00 0 NM_178554.5 LAMA2 100.00 0 NM_000426.3 LAMB2 100.00 0 NM_002292.3 LAMP2 100.00 0 NM_002294.2 LARGE1 100.00 0 NM_004737.6 LDB3 100.00 0 NM_001080116.1 LIMS2 100.00 0 NM_001136037.2 LMOD3 100.00 0 NM_198271.4 MAP3K20 100.00 0 NM_016653.2 MB 100.00 0 NM_005368.2 MEGF10 100.00 0 NM_032446.2 MSTN 100.00 0 NM_005259.2 MTM1 100.00 0 NM_000252.2 MTMR14 100.00 0 NM_022485.4 MYH2 100.00 0 NM_017534.5 MYH8 100.00 0 NM_002472.2 MYMK 100.00 0 NM_001080483.2 MYOT 100.00 0 NM_006790.2 MED12 100.00 0 NM_015560.2 P4HA1 100.00 0 NM_001017962.2 PAX7 100.00 0 NM_002584.2 PDHA1 100.00 0 NM_000284.3 PFKM 100.00 0 NM_000289.5 PGK1 100.00 0 NM_000291.3 PGM1 100.00 0 NM_002633.2 POGLUT1 100.00 0 NM_152305.2 POLG 100.00 0 NM_002693.2 POLG2 100.00 0 NM_007215.3 POMGNT1 100.00 0 NM_017739.3 POMGNT2 100.00 0 NM_032806.5 POMK 100.00 0 NM_032237.4 POPDC3 100.00 0 NM_022361.4 PRKAG2 100.00 0 NM_016203.3 PYROXD1 100.00 0 NM_024854.4 RBCK1 100.00 0 NM_031229.3 RXYLT1 100.00 0 NM_014254.2 SBDS 100.00 0 NM_016038.3 SGCA 100.00 0 NM_000023.3 SGCD 100.00 0 NM_000337.5 SIL1 100.00 0 NM_022464.4 SLC18A3 100.00 0 NM_003055.2 SLC22A5 100.00 0 NM_003060.3 SLC25A20 100.00 0 NM_000387.5 SLC5A7 100.00 0 NM_021815.4 SNAP25 100.00 0 NM_130811.3 SQSTM1 100.00 0 NM_003900.4 STAC3 100.00 0 NM_145064.2 STIM1 100.00 0 NM_003156.3 WWTR1 100.00 0 NM_000116.4 TCAP 100.00 0 NM_003673.3 TMEM126B 100.00 0 NM_018480.5 TMEM43 100.00 0 NM_024334.2 TNNI2 100.00 0 NM_003282.3 TNNT3 100.00 0 NM_006757.3 TNPO3 100.00 0 NM_012470.3 TOR1AIP1 100.00 0 NM_001267578.1 TPM3 100.00 0 NM_152263.3 TRIM32 100.00 0 NM_012210.3 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.4 VMA21 100.00 0 NM_001017980.3