- Genetic tests
- Myopathy (gene panel)
Myopathy (gene panel)
Full name: |
Myopathy (gene panel)
|
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,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Accreditation (ISO 15189): |
2022-10-07 / 2023-10-06
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
08 Aug 2019 - 08:55
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Changed: |
24 Jan 2023 - 11:53
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- AARS1
- ABHD5
- ACAD9
- ACADM
- ACADVL
- ACTA1
- ACVR1
- ADSS1
- AGK
- AGL
- AGRN
- AIFM1
- ALDOA
- ALG13
- ALG14
- ALG2
- ALS2
- AMPD1
- ANG
- ANO5
- AR
- ASAH1
- ASCC1
- ATP2A1
- ATP7A
- ATXN2
- B3GALNT2
- B4GAT1
- BAG3
- BCS1L
- BICD2
- BIN1
- BSCL2
- BVES
- C1QBP
- C9ORF72
- CACNA1A
- CACNA1S
- CAPN3
- CASQ1
- CAV3
- CAVIN1
- CCDC78
- CFL2
- CHAT
- CHCHD10
- CHKB
- CHMP2B
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- CHST14
- CLCN1
- CLN3
- CNBP
- CNTN1
- COL12A1
- COL13A1
- COL6A1
- COL6A2
- COL6A3
- COLQ
- COQ9
- COX10
- COX15
- COX20
- COX6B1
- COX8A
- CPT2
- CRPPA
- CRYAB
- DAG1
- DCTN1
- DES
- DGUOK
- DMD
- DMPK
- DNA2
- DNAJB2
- DNAJB6
- DNM2
- DNMT3B
- DOK7
- DPAGT1
- DPM1
- DPM2
- DPM3
- DYNC1H1
- DYSF
- ECEL1
- EMD
- ENO3
- ERBB3
- ERBB4
- ETFA
- ETFB
- ETFDH
- EXOSC3
- EXOSC8
- FASTKD2
- FBN2
- FBXL4
- FBXO38
- FDX2
- FHL1
- FIG4
- FKRP
- FKTN
- FLAD1
- FLNC
- FOXRED1
- FUS
- FXR1
- GAA
- GABRA3
- GARS1
- GBE1
- GFER
- GFPT1
- GLE1
- GLI3
- GMPPB
- GNE
- GOLGA2
- GYG1
- GYS1
- HACD1
- HADHA
- HADHB
- HEXB
- HNRNPA1
- HNRNPA2B1
- HNRNPDL
- HRAS
- HSPB3
- HSPB8
- HSPG2
- IBA57
- IGHMBP2
- INPP5K
- ISCU
- ITGA7
- KBTBD13
- KCNA1
- KCNH2
- KCNJ18
- KCNJ2
- KCNQ1
- KIF5A
- KLHL40
- KLHL41
- KLHL9
- KY
- LAMA2
- LAMA5
- LAMB2
- LAMP2
- LARGE1
- LDB3
- LDHA
- LGI4
- LIMS2
- LMNA
- LMOD3
- LPIN1
- LRP4
- LRPPRC
- MAP3K20
- MATR3
- MCCC1
- MCCC2
- MEGF10
- MGME1
- MPV17
- MSTN
- MTM1
- MTMR14
- MUSK
- MYBPC1
- MYBPC3
- MYH2
- MYH3
- MYH7
- MYH8
- MYL1
- MYMK
- MYO18B
- MYO9A
- MYOT
- MYPN
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA2
- NDUFA3
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF5
- NDUFAF6
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEB
- NEFH
- NUBPL
- OPTN
- ORAI1
- PABPN1
- PET100
- PFKM
- PFN1
- PGAM2
- PGK1
- PGM1
- PHKA1
- PHKB
- PHKG1
- PIEZO2
- PIP5K1C
- PLEC
- PLEKHG5
- PNPLA2
- PNPLA8
- POGLUT1
- POLG
- POLG2
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PREPL
- PRKAG2
- PRPH
- PUS1
- PYGM
- PYROXD1
- RAPSN
- RBCK1
- RBM7
- REEP1
- RNASEH1
- RRM2B
- RXYLT1
- RYR1
- SCN4A
- SCO1
- SCO2
- SELENON
- SETX
- SGCA
- SGCB
- SGCD
- SGCG
- SIGMAR1
- SIL1
- SLC18A3
- SLC22A5
- SLC25A20
- SLC25A4
- SLC52A2
- SLC52A3
- SLC5A7
- SMCHD1
- SMN1
- SNAP25
- SOD1
- SPEG
- SPG11
- SPG7
- SPTBN4
- SQSTM1
- STAC3
- STIM1
- SUCLA2
- SUCLG1
- SURF1
- SYNE1
- SYNE2
- SYT2
- TACO1
- TAFAZZIN
- TANGO2
- TARDBP
- TARS2
- TCAP
- TIA1
- TK2
- TMEM43
- TNNI2
- TNNT1
- TNNT3
- TNPO3
- TOP3A
- TOR1AIP1
- TPM2
- TPM3
- TRAPPC11
- TRIM32
- TRIM54
- TRIM63
- TRIP4
- TRMT5
- TRPV4
- TSFM
- TTN
- TUBA4A
- TWNK
- TYMP
- UBA1
- UBQLN2
- VAMP1
- VAPB
- VARS1
- VCP
- VMA21
- VPS33B
- VRK1
- WARS1
- XK
- YARS2
- ZC4H2
-
Myopathy (332 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD5 100.00 1 NM_016006.6 ACAD9 100.00 1 NM_014049.5 ACADM 100.00 1 NM_000016.6 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 ACVR1 100.00 1 NM_001111067.4 ADSS1 100.00 1 NM_199165.2 AGK 100.00 1 NM_018238.4 AGL 100.00 1 NM_000642.3 AGRN 100.00 1 NM_198576.4 AIFM1 100.00 1 NM_004208.4 ALDOA 100.00 1 NM_184041.4 ALG13 98.00 1 NM_001099922.3 ALG14 100.00 1 NM_144988.4 ALG2 100.00 1 NM_033087.4 ALS2 100.00 1 NM_020919.4 AMPD1 100.00 1 NM_000036.2 ANG 100.00 1 NM_001145.4 ANO5 100.00 1 NM_213599.3 AR 100.00 1 NM_000044.6 ASAH1 100.00 1 NM_177924.5 ASCC1 100.00 1 NM_001198800.3 ATP2A1 100.00 1 NM_004320.6 ATP7A 100.00 1 NM_000052.7 ATXN2 100.00 1 NM_001372574.1 B3GALNT2 100.00 1 NM_152490.5 B4GAT1 100.00 1 NM_006876.3 BAG3 100.00 1 NM_004281.4 BCS1L 100.00 1 NM_001079866.2 BICD2 100.00 1 NM_001003800.2 BIN1 100.00 1 NM_139343.3 BSCL2 100.00 1 NM_001122955.3 BVES 100.00 1 NM_001199563.2 C1QBP 100.00 1 NM_001212.4 C9ORF72 100.00 0 NM_018325.5 CACNA1A 100.00 1 NM_023035.3 CACNA1S 100.00 1 NM_000069.3 CAPN3 100.00 1 NM_000070.3 CASQ1 100.00 1 NM_001231.5 CAV3 100.00 1 NM_033337.3 CAVIN1 100.00 1 NM_012232.6 CCDC78 100.00 1 NM_001031737.3 CFL2 100.00 1 NM_138638.5 CHAT 100.00 1 NM_020549.4 CHCHD10 100.00 1 NM_213720.3 CHKB 100.00 1 NM_005198.5 CHMP2B 100.00 1 NM_014043.4 CHRNA1 100.00 1 NM_000079.4 CHRNB1 100.00 1 NM_000747.3 CHRND 100.00 1 NM_000751.3 CHRNE 100.00 1 NM_000080.4 CHRNG 100.00 1 NM_005199.5 CHST14 100.00 1 NM_130468.4 CLCN1 100.00 1 NM_000083.3 CLN3 100.00 1 NM_001042432.2 CNBP 100.00 1 NM_003418.5 CNTN1 100.00 1 NM_001843.4 COL12A1 100.00 1 NM_004370.6 COL13A1 100.00 1 NM_001130103.2 COL6A1 100.00 1 NM_001848.3 COL6A2 100.00 1 NM_001849.4 COL6A3 100.00 1 NM_004369.4 COLQ 100.00 1 NM_005677.4 COQ9 100.00 1 NM_020312.4 COX10 100.00 1 NM_001303.4 COX15 100.00 1 NM_078470.6 COX20 100.00 1 NM_198076.6 COX6B1 100.00 1 NM_001863.5 COX8A 100.00 1 NM_004074.3 CPT2 100.00 1 NM_000098.3 CRPPA 100.00 1 NM_001101426.4 CRYAB 100.00 1 NM_001289808.2 DAG1 100.00 1 NM_001177634.2 DCTN1 100.00 1 NM_004082.4 DES 100.00 1 NM_001927.4 DGUOK 100.00 1 NM_080916.3 DMD 100.00 1 NM_004006.2 DMPK 100.00 1 NM_004409.5 DNA2 100.00 1 NM_001080449.3 DNAJB2 100.00 1 NM_006736.6 DNAJB6 100.00 1 NM_058246.4 DNM2 100.00 1 NM_001005361.3 DNMT3B 100.00 1 NM_006892.4 DOK7 100.00 1 NM_173660.5 DPAGT1 100.00 1 NM_001382.4 DPM1 99.00 1 NM_001317035.1 DPM2 100.00 1 NM_003863.4 DPM3 100.00 1 NM_153741.2 DYNC1H1 100.00 1 NM_001376.5 DYSF 100.00 1 NM_001130987.2 ECEL1 100.00 1 NM_004826.4 EMD 100.00 1 NM_000117.3 ENO3 100.00 1 NM_053013.4 ERBB3 100.00 1 NM_001982.4 ERBB4 100.00 1 NM_005235.3 ETFA 100.00 1 NM_000126.4 ETFB 100.00 1 NM_001985.3 ETFDH 100.00 1 NM_004453.4 EXOSC3 100.00 1 NM_016042.4 EXOSC8 100.00 1 NM_181503.3 FASTKD2 100.00 1 NM_001136193.2 FBN2 100.00 1 NM_001999.4 FBXL4 100.00 1 NM_001278716.2 FBXO38 100.00 1 NM_205836.3 FDX2 100.00 1 NM_001031734.4 FHL1 100.00 1 NM_001159699.2 FIG4 100.00 1 NM_014845.6 FKRP 100.00 1 NM_024301.5 FKTN 100.00 1 NM_006731.2 FLAD1 100.00 1 NM_025207.5 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FUS 100.00 1 NM_004960.4 FXR1 100.00 1 NM_005087.4 GAA 100.00 1 NM_000152.5 GABRA3 100.00 1 NM_000808.4 GARS1 100.00 1 NM_002047.4 GBE1 100.00 1 NM_000158.4 GFER 100.00 1 NM_005262.3 GFPT1 100.00 1 NM_001244710.2 GLE1 100.00 1 NM_001003722.2 GLI3 100.00 1 NM_000168.6 GMPPB 100.00 1 NM_021971.4 GNE 100.00 1 NM_005476.7 GOLGA2 100.00 1 XM_005251932.1 GYG1 100.00 1 NM_004130.4 GYS1 100.00 1 NM_002103.5 HACD1 100.00 1 NM_014241.4 HADHA 100.00 1 NM_000182.5 HADHB 100.00 1 NM_000183.3 HEXB 100.00 1 NM_000521.4 HNRNPA1 100.00 1 NM_031157.4 HNRNPA2B1 100.00 1 NM_031243.3 HNRNPDL 100.00 1 NM_031372.3 HRAS 100.00 1 NM_005343.4 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 HSPG2 100.00 1 NM_005529.7 IBA57 100.00 1 NM_001010867.4 IGHMBP2 100.00 1 NM_002180.3 INPP5K 100.00 1 NM_016532.4 ISCU 100.00 1 NM_213595.3 ITGA7 100.00 1 NM_002206.3 KBTBD13 100.00 1 NM_001101362.2 KCNA1 100.00 1 NM_000217.3 KCNH2 100.00 1 NM_000238.4 KCNJ18 100.00 1 NM_001194958.2 KCNJ2 100.00 1 NM_000891.3 KCNQ1 100.00 1 NM_000218.3 KIF5A 100.00 1 NM_004984.4 KLHL40 100.00 1 NM_152393.4 KLHL41 100.00 1 NM_006063.3 KLHL9 100.00 1 NM_018847.4 KY 100.00 1 NM_178554.6 LAMA2 100.00 1 NM_000426.3 LAMA5 100.00 1 NM_005560.6 LAMB2 100.00 1 NM_002292.4 LAMP2 100.00 1 NM_002294.3 LARGE1 100.00 1 NM_004737.6 LDB3 98.00 1 NM_001171610.2 LDHA 100.00 1 NM_005566.4 LGI4 100.00 1 NM_139284.3 LIMS2 100.00 1 NM_017980.4 LMNA 100.00 1 NM_170707.4 LMOD3 100.00 1 NM_198271.5 LPIN1 100.00 1 NM_001349206.2 LRP4 100.00 1 NM_002334.4 LRPPRC 100.00 1 NM_133259.4 MAP3K20 100.00 1 NM_016653.3 MATR3 100.00 1 NM_018834.6 MCCC1 100.00 1 NM_020166.5 MCCC2 100.00 1 NM_022132.5 MEGF10 100.00 1 NM_001256545.2 MGME1 100.00 1 NM_052865.4 MPV17 100.00 1 NM_002437.5 MSTN 100.00 1 NM_005259.3 MTM1 100.00 1 NM_000252.3 MTMR14 100.00 1 NM_001077525.3 MUSK 100.00 1 NM_005592.4 MYBPC1 100.00 1 NM_002465.4 MYBPC3 100.00 1 NM_000256.3 MYH2 100.00 1 NM_017534.6 MYH3 100.00 1 NM_002470.4 MYH7 100.00 1 NM_000257.4 MYH8 100.00 1 NM_002472.3 MYL1 100.00 1 NM_079420.3 MYMK 100.00 1 NM_001080483.3 MYO18B 100.00 1 NM_032608.7 MYO9A 100.00 1 NM_006901.4 MYOT 100.00 1 NM_006790.3 MYPN 100.00 1 NM_032578.3 NDUFA1 100.00 1 NM_004541.4 NDUFA10 100.00 1 NM_004544.4 NDUFA11 100.00 1 NM_175614.5 NDUFA12 100.00 1 NM_018838.5 NDUFA2 100.00 1 NM_002488.5 NDUFA3 100.00 1 NM_004542.4 NDUFA9 100.00 1 NM_005002.5 NDUFAF1 100.00 1 NM_016013.4 NDUFAF2 100.00 1 NM_174889.5 NDUFAF5 100.00 1 NM_024120.5 NDUFAF6 100.00 1 NM_152416.4 NDUFS1 100.00 1 NM_005006.7 NDUFS2 100.00 1 NM_004550.4 NDUFS3 100.00 1 NM_004551.3 NDUFS4 100.00 1 NM_002495.4 NDUFS7 100.00 1 NM_024407.5 NDUFS8 100.00 1 NM_002496.4 NDUFV1 100.00 1 NM_007103.4 NDUFV2 100.00 1 NM_021074.5 NEB 88.00 1 NM_001271208.2 NEFH 100.00 1 NM_021076.4 NUBPL 100.00 1 NM_025152.3 OPTN 100.00 1 NM_001008212.2 ORAI1 100.00 1 NM_032790.3 PABPN1 100.00 1 NM_004643.3 PET100 100.00 1 NM_001171155.2 PFKM 100.00 1 NM_000289.6 PFN1 100.00 1 NM_005022.4 PGAM2 100.00 1 NM_000290.4 PGK1 100.00 1 NM_000291.4 PGM1 100.00 1 NM_002633.3 PHKA1 100.00 1 NM_002637.4 PHKB 100.00 1 NM_000293.3 PHKG1 100.00 1 NM_001258459.1 PIEZO2 100.00 1 NM_022068.3 PIP5K1C 100.00 1 NM_012398.3 PLEC 100.00 1 NM_201380.4 PLEKHG5 100.00 1 NM_001265592.1 PNPLA2 100.00 1 NM_020376.4 PNPLA8 100.00 1 NM_001256007.3 POGLUT1 100.00 1 NM_152305.3 POLG 100.00 1 NM_001126131.2 POLG2 100.00 1 NM_007215.4 POMGNT1 100.00 1 NM_001243766.1 POMGNT2 100.00 1 NM_032806.6 POMK 100.00 1 NM_032237.5 POMT1 100.00 1 NM_001077365.2 POMT2 100.00 1 NM_013382.5 PREPL 100.00 1 NM_001171613.2 PRKAG2 100.00 1 NM_016203.4 PRPH 100.00 1 NM_006262.4 PUS1 100.00 1 NM_025215.6 PYGM 100.00 1 NM_005609.4 PYROXD1 100.00 1 NM_024854.5 RAPSN 100.00 1 NM_005055.5 RBCK1 100.00 1 NM_031229.4 RBM7 100.00 1 NM_001286045.1 REEP1 100.00 1 NM_001371279.1 RNASEH1 100.00 1 NM_002936.5 RRM2B 100.00 1 NM_015713.5 RXYLT1 100.00 1 NM_014254.3 RYR1 100.00 1 NM_000540.3 SCN4A 100.00 1 NM_000334.4 SCO1 100.00 1 NM_004589.4 SCO2 100.00 1 NM_005138.3 SELENON 90.00 1 NM_020451.3 SETX 100.00 1 NM_015046.7 SGCA 100.00 1 NM_000023.4 SGCB 100.00 1 NM_000232.5 SGCD 100.00 1 XM_017009724.1 SGCG 100.00 1 NM_000231.2 SIGMAR1 100.00 1 NM_005866.4 SIL1 100.00 1 NM_022464.5 SLC18A3 100.00 1 NM_003055.3 SLC22A5 100.00 1 NM_003060.4 SLC25A20 100.00 1 NM_000387.6 SLC25A4 100.00 1 NM_001151.4 SLC52A2 100.00 1 NM_001363118.2 SLC52A3 100.00 1 NM_033409.4 SLC5A7 100.00 1 NM_021815.5 SMCHD1 100.00 1 NM_015295.3 SMN1 6.00 0 NM_000344.3+(exon 1 Ã 7 non couvert) SNAP25 100.00 1 NM_130811.4 SOD1 100.00 1 NM_000454.5 SPEG 100.00 1 NM_005876.5 SPG11 100.00 1 NM_025137.4 SPG7 100.00 1 NM_003119.4 SPTBN4 100.00 1 NM_020971.3 SQSTM1 100.00 1 NM_003900.5 STAC3 100.00 1 NM_145064.3 STIM1 100.00 1 NM_001277961.1 SUCLA2 100.00 1 NM_003850.2 SUCLG1 100.00 1 NM_003849.4 SURF1 100.00 1 NM_003172.4 SYNE1 100.00 1 NM_182961.4 SYNE2 100.00 1 NM_182914.2 SYT2 100.00 1 NM_177402.5 TACO1 100.00 1 NM_016360.4 TANGO2 100.00 1 NM_152906.7 TARDBP 100.00 1 NM_007375.4 TARS2 100.00 1 NM_025150.5 TAFAZZIN 100.00 1 NM_000116.5 TCAP 100.00 1 NM_003673.4 TIA1 100.00 1 NM_022173.4 TK2 100.00 1 NM_004614.5 TMEM43 100.00 1 NM_024334.3 TNNI2 100.00 1 NM_003282.4 TNNT1 100.00 1 NM_003283.6 TNNT3 100.00 1 NM_006757.4 TNPO3 100.00 1 NM_012470.3 TOP3A 100.00 1 NM_004618.5 TOR1AIP1 100.00 1 NM_001267578.1 TPM2 100.00 1 NM_003289.4 TPM3 100.00 1 NM_152263.4 TRAPPC11 100.00 1 NM_021942.6 TRIM32 100.00 1 NM_012210.3 TRIM54 100.00 1 NM_187841.3 TRIM63 100.00 1 NM_032588.3 TRIP4 100.00 1 NM_016213.5 TRMT5 100.00 1 NM_020810.3 TRPV4 100.00 1 NM_021625.5 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 TUBA4A 100.00 1 NM_006000.3 TWNK 100.00 1 NM_021830.5 TYMP 100.00 1 NM_001257989.1 UBA1 100.00 1 NM_003334.4 UBQLN2 100.00 1 NM_013444.3 VAMP1 100.00 1 NM_014231.5 VAPB 100.00 1 NM_004738.5 VARS1 100.00 1 NM_001167734.1 VCP 100.00 1 NM_007126.5 VMA21 100.00 1 NM_001363810.1 VPS33B 100.00 1 NM_018668.5 VRK1 100.00 1 NM_003384.3 WARS1 100.00 1 NM_004184.4 XK 100.00 1 NM_021083.4 YARS2 100.00 1 NM_001040436.3 ZC4H2 100.00 1 NM_018684.4