- Genetic tests
- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
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Description: |
Charcot-Marie-Tooth (other than type 1A) (139 genes, IPN panel) AARS, ABCD1, ABHD12, AGTPBP1, AIFM1, APTX, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12orf65, CCT5, CD59, CNTNAP1, COA7, COX6A1, CTDP1, DCAF8, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, GAN, GARS, GDAP1, GJB1, GJB3, GLA, GNB4, HADHA, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IFRD1, IGHMBP2, INF2, ITPR3, KARS, KIF1A, KIF1B, KIF5A, KLHL13, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OPA3, PDK3, PDXK, PEX1, PEX7, PHYH, PLEKHG5, PMP2, PMP22, PNKP, POLG, PRDM12, PRNP, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SCP2, SEPT9, SETX, SGPL1, SH3BP4, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TDP1, TECPR2, TFG, TRIM2, TRPA1, TRPV4, TTR, TUBB3, TWNK, TYMP, VCP, VRK1, WARS, WNK1, YARS |
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): |
unknown
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Document(s): |
IPN_genpanel_Request Form - KUL.pdf217.72 KB
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Created: |
18 Jul 2019 - 10:28
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Changed: |
13 Oct 2021 - 15:46
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URL: |
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Amyotrophic lateral sclerosis
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2I
- Autosomal dominant Charcot-Marie-Tooth disease type 2J
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Autosomal dominant Charcot-Marie-Tooth disease type 2O
- Autosomal dominant Charcot-Marie-Tooth disease type 2V
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant slowed nerve conduction velocity
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 3
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive spastic paraplegia type 55
- Autosomal spastic paraplegia type 30
- CADDS
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2B5
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4H
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Dejerine-Sottas syndrome
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Fabry disease
- Giant axonal neuropathy
- Hereditary neuropathy with liability to pressure palsies
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy type 1
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 6
- Hereditary sensory and autonomic neuropathy type 8
- Hypomyelination neuropathy-arthrogryposis syndrome
- Muscular dystrophy, Selcen type
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Neuralgic amyotrophy
- Neuropathy with hearing impairment
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- Perrault syndrome
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- Pontocerebellar hypoplasia type 1
- SURF1-related Charcot-Marie-Tooth disease type 4
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 6
- AARS1
- ABCD1
- ABHD12
- AGTPBP1
- AIFM1
- APTX
- ARHGEF10
- ATL1
- ATL3
- ATP1A1
- ATP7A
- BAG3
- BICD2
- BSCL2
- CCT5
- CD59
- CNTNAP1
- COA7
- COX6A1
- CTDP1
- DCAF8
- DCTN1
- DGAT2
- DHTKD1
- DNAJB2
- DNM2
- DNMT1
- DRP2
- DST
- DYNC1H1
- EGR2
- ELP1
- FBLN5
- FBXO38
- FGD4
- FIG4
- FLVCR1
- GAN
- GARS1
- GDAP1
- GJB1
- GJB3
- GLA
- GNB4
- HADHA
- HADHB
- HARS1
- HINT1
- HK1
- HOXD10
- HSPB1
- HSPB3
- HSPB8
- IARS2
- IFRD1
- IGHMBP2
- INF2
- ITPR3
- KARS1
- KIF1A
- KIF1B
- KIF5A
- KLHL13
- LITAF
- LMNA
- LRSAM1
- MARS1
- MCM3AP
- MED12
- MED25
- MFN2
- MME
- MORC2
- MPV17
- MPZ
- MTMR2
- MTRFR
- MYH7B
- NAGLU
- NDRG1
- NEFH
- NEFL
- NGF
- NTRK1
- OPA3
- PDK3
- PDXK
- PEX1
- PEX7
- PHYH
- PLEKHG5
- PMP2
- PMP22
- PNKP
- POLG
- PRDM12
- PRNP
- PRPS1
- PRX
- RAB7A
- REEP1
- RETREG1
- SBF1
- SBF2
- SCN10A
- SCN11A
- SCN9A
- SCO2
- SCP2
- SEPTIN9
- SETX
- SGPL1
- SH3BP4
- SH3TC2
- SIGMAR1
- SLC12A6
- SLC25A46
- SLC5A7
- SORD
- SOX10
- SPG11
- SPTLC1
- SPTLC2
- SURF1
- TDP1
- TECPR2
- TFG
- TRIM2
- TRPA1
- TRPV4
- TTR
- TUBB3
- TWNK
- TYMP
- VCP
- VRK1
- WARS1
- WNK1
- YARS1
-
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 NM_001605.2 ABCD1 100.00 0 NM_000033.3 ABHD12 98.00 0 NM_001042472.2 AGTPBP1 99.90 0 NM_001286715.1 AIFM1 100.00 0 NM_004208.3 APTX 99.00 0 NM_175073.2 ARHGEF10 100.00 0 NM_014629.3 ATL1 100.00 0 NM_015915.4 ATL3 100.00 0 NM_015459.4 ATP1A1 100.00 0 NM_000701.7 ATP7A 100.00 0 NM_000052.6 BAG3 100.00 0 NM_004281.3 BICD2 100.00 0 NM_001003800.1 BSCL2 100.00 0 NM_032667.6 MTRFR 100.00 0 NM_152269.4 CCT5 100.00 0 NM_012073.4 CD59 100.00 0 NM_203330.2 CNTNAP1 100.00 0 NM_003632.2 COA7 100.00 0 NM_023077.2 COX6A1 100.00 0 NM_004373.3 CTDP1 98.90 0 NM_004715.4 DCAF8 100.00 0 NM_015726.3 DCTN1 100.00 0 NM_004082.4 DGAT2 100.00 0 NM_032564.4 DHTKD1 99.90 0 NM_018706.6 DNAJB2 100.00 0 NM_001039550.1 DNM2 100.00 0 NM_001005360.2 DNMT1 99.50 0 NM_001130823.2 DRP2 100.00 0 NM_001939.2 DST 100.00 0 NM_001723.5 DYNC1H1 100.00 0 NM_001376.4 EGR2 100.00 0 NM_000399.4 ELP1 100.00 0 NM_003640.4 FBLN5 100.00 0 NM_006329.3 FBXO38 100.00 0 NM_030793.4 FGD4 100.00 0 NM_139241.3 FIG4 100.00 0 NM_014845.5 FLVCR1 100.00 0 NM_014053.3 GAN 100.00 0 NM_022041.3 GARS1 100.00 0 NM_002047.3 GDAP1 100.00 0 NM_018972.3 GJB1 100.00 0 NM_000166.5 GJB3 100.00 0 NM_024009.2 GLA 100.00 0 NM_000169.2 GNB4 100.00 0 NM_021629.3 HADHA 100.00 0 NM_000182.4 HADHB 100.00 0 NM_000183.2 HARS1 100.00 0 NM_002109.5 HINT1 100.00 0 NM_005340.6 HK1 100.00 0 NM_000188.2 HOXD10 100.00 0 NM_002148.3 HSPB1 99.00 0 NM_001540.4 HSPB3 100.00 0 NM_006308.2 HSPB8 100.00 0 NM_014365.2 IARS2 100.00 0 NM_018060.3 IFRD1 99.90 0 NM_001550.3 IGHMBP2 100.00 0 NM_002180.2 INF2 98.80 0 NM_022489.3 ITPR3 99.50 0 NM_002224.3 KARS1 100.00 0 NM_001130089.1 KIF1A 99.90 0 NM_004321.7 KIF1B 100.00 0 NM_015074.3 KIF5A 100.00 0 NM_004984.3 KLHL13 100.00 0 NM_033495.3 LITAF 100.00 0 NM_004862.3 LMNA 99.90 0 NM_170707.3 LRSAM1 100.00 0 NM_138361.5 MARS1 100.00 0 NM_004990.3 MCM3AP 100.00 0 NM_003906.4 MED25 100.00 0 NM_030973.3 MFN2 100.00 0 NM_014874.3 MME 100.00 0 NM_007289.3 MORC2 100.00 0 NM_001303256.2 MPV17 100.00 0 NM_002437.4 MPZ 100.00 0 NM_000530.7 MTMR2 100.00 0 NM_016156.5 MYH7B 99.80 0 NM_024729.3 NAGLU 99.70 0 NM_000263.3 NDRG1 100.00 0 NM_006096.3 NEFH 99.50 0 NM_021076.3 NEFL 99.60 0 NM_006158.4 NGF 100.00 0 NM_002506.2 NTRK1 100.00 0 NM_001012331.1 MED12 100.00 0 NM_015560.2 OPA3 100.00 0 NM_025136.3 PDK3 100.00 0 NM_001142386.2 PDXK 100.00 0 NM_003681.4 PEX1 100.00 0 NM_000466.2 PEX7 100.00 0 NM_000288.3 PHYH 100.00 0 NM_006214.3 PLEKHG5 99.80 0 NM_020631.4 PMP2 100.00 0 NM_002677.4 PMP22 100.00 0 NM_000304.3 PNKP 99.80 0 NM_007254.3 POLG 100.00 0 NM_002693.2 PRDM12 90.30 0 NM_021619.2 PRNP 100.00 0 NM_000311.4 PRPS1 100.00 0 NM_002764.3 PRX 100.00 0 NM_181882.2 RAB7A 100.00 0 NM_004637.5 REEP1 100.00 0 NM_022912.2 RETREG1 99.40 0 NM_001034850.2 SBF1 99.70 0 NM_002972.3 SBF2 100.00 0 NM_030962.3 SCN10A 100.00 0 NM_006514.3 SCN11A 99.80 0 NM_014139.2 SCN9A 100.00 0 NM_002977.3 SCO2 100.00 0 NM_005138.2 SCP2 100.00 0 NM_002979.4 SEPTIN9 99.20 0 NM_006640.4 SETX 100.00 0 NM_015046.6 SGPL1 100.00 0 NM_003901.3 SH3BP4 100.00 0 NM_014521.2 SH3TC2 100.00 0 NM_024577.3 SIGMAR1 100.00 0 NM_005866.3 SLC12A6 100.00 0 NM_133647.1 SLC25A46 100.00 0 NM_138773.3 SLC5A7 100.00 0 NM_021815.4 SORD 91.20 0 NM_003104.5 SOX10 100.00 0 NM_006941.3 SPG11 100.00 0 NM_025137.3 SPTLC1 100.00 0 NM_006415.3 SPTLC2 100.00 0 NM_004863.3 SURF1 99.00 0 NM_003172.3 TDP1 100.00 0 NM_018319.3 TECPR2 100.00 0 NM_014844.4 TFG 100.00 0 NM_006070.5 TRIM2 100.00 0 NM_001130067.1 TRPA1 100.00 0 NM_007332.2 TRPV4 99.90 0 NM_021625.4 TTR 100.00 0 NM_000371.3 TUBB3 100.00 0 NM_006086.3 TWNK 100.00 0 NM_021830.4 TYMP 100.00 0 NM_001953.4 VCP 99.90 0 NM_007126.4 VRK1 100.00 0 NM_003384.2 WARS1 99.80 0 NM_004184.3 WNK1 99.80 0 NM_018979.3 YARS1 100.00 0 NM_003680.3