- 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)
|
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
|
Test specialty: |
Molecular Genetics
|
Test purpose: |
Post-natal Diagnosis
|
Specimen: |
Peripheral (whole) blood on EDTA
|
Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
unknown
|
Document(s): |
IPN_genpanel_Request Form - KUL.pdf217.72 KB
|
Created: |
18 Jul 2019 - 10:28
|
Changed: |
13 Oct 2021 - 15:46
|
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
- ADPRS
- AGTPBP1
- AIFM1
- APTX
- ARHGEF10
- ATL1
- ATL3
- ATP1A1
- ATP7A
- B4GALNT1
- BAG3
- BICD2
- BSCL2
- CADM3
- CCT5
- CD59
- CFAP276
- CHCHD10
- CLTCL1
- CNTNAP1
- COA7
- COX6A1
- CPOX
- CTDP1
- CYP27A1
- DCAF8
- DCTN1
- DCTN2
- DGAT2
- DHTKD1
- DNAJB2
- DNM2
- DNMT1
- DRP2
- DST
- DYNC1H1
- EGR2
- ELP1
- FBLN5
- FBXO38
- FGD4
- FIG4
- GAN
- GARS1
- GBF1
- GDAP1
- GJB1
- GJB3
- GLA
- GNB4
- GSN
- HADHA
- HADHB
- HARS1
- HEXA
- HEXB
- HINT1
- HK1
- HMBS
- HNRNPA1
- HOXD10
- HSPB1
- HSPB3
- HSPB8
- IARS2
- IFRD1
- IGHMBP2
- INF2
- ITPR3
- KARS1
- KIF1A
- KIF1B
- KIF5A
- LITAF
- LMNA
- LRSAM1
- MARS1
- MCM3AP
- MED25
- MFN2
- MME
- MORC2
- MPV17
- MPZ
- MTMR2
- MTRFR
- MYH14
- NAGLU
- NDRG1
- NEFH
- NEFL
- NGF
- NTRK1
- OPA1
- OPA3
- PDK3
- PDXK
- PEX1
- PEX7
- PHYH
- PIEZO2
- PIGB
- PLD3
- PLEKHG5
- PMP2
- PMP22
- PNKP
- POLG
- POLR3B
- PPOX
- PRDM12
- PRNP
- PRPS1
- PRX
- PTRH2
- RAB7A
- REEP1
- RETREG1
- SBF1
- SBF2
- SCN10A
- SCN11A
- SCN9A
- SCO2
- SCP2
- SEPTIN9
- SETX
- SGPL1
- SH3TC2
- SIGMAR1
- SLC12A6
- SLC25A46
- SLC52A2
- SLC52A3
- SLC5A7
- SORD
- SOX10
- SPG11
- SPTAN1
- SPTLC1
- SPTLC2
- SPTLC3
- SYT2
- TBCE
- TBCK
- TDP1
- TECPR2
- TFG
- TRIM2
- TRPV4
- TTR
- TUBB3
- TWNK
- TYMP
- VAPB
- VCP
- VRK1
- VWA1
- WARS1
- WNK1
- YARS1
- ZFHX2
-
Inherited Peripheral Neuropathies gene panel (165 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments VWA1 89.29 0 , PRDM12 92.40 0 , SORD 94.99 0 , ABHD12 98.57 0 , NAGLU 98.71 0 , CTDP1 99.13 0 , CHCHD10 99.42 0 , GSN 99.43 0 , APTX 99.61 0 , RETREG1 99.71 0 , DNMT1 99.76 0 , NEFH 99.80 0 , TBCE 99.80 0 , PRX 99.83 0 , CPOX 99.85 0 , PRNP 99.86 0 , SEPTIN9 99.87 0 , PEX7 99.90 0 , NEFL 99.91 0 , TYMP 99.91 0 , IARS2 99.92 0 , PLEKHG5 99.93 0 , AGTPBP1 99.93 0 , NDRG1 99.93 0 , DGAT2 99.93 0 , ITPR3 99.94 0 , PDK3 99.94 0 , PHYH 99.94 0 , MYH14 99.95 0 , PIEZO2 99.95 0 , SYT2 99.95 0 , SPTLC2 99.95 0 , SOX10 99.95 0 , B4GALNT1 99.95 0 , POLG 99.95 0 , KARS1 99.95 0 , IFRD1 99.96 0 , FGD4 99.96 0 , GJB1 99.96 0 , REEP1 99.96 0 , GAN 99.96 0 , VCP 99.97 0 , INF2 99.97 0 , HSPB1 99.97 0 , DRP2 99.97 0 , NTRK1 99.97 0 , DNM2 99.97 0 , PIGB 99.97 0 , PRPS1 99.97 0 , SCN11A 99.97 0 , KIF1B 99.97 0 , HARS1 99.97 0 , FBLN5 99.97 0 , ABCD1 99.97 0 , KIF1A 99.97 0 , CD59 99.98 0 , CNTNAP1 99.98 0 , SBF1 99.98 0 , SPTLC1 99.98 0 , AARS1 99.98 0 , PMP2 99.98 0 , ADPRS 99.98 0 , MPZ 99.98 0 , TFG 99.98 0 , BICD2 99.98 0 , PEX1 99.98 0 , GARS1 99.98 0 , TECPR2 99.98 0 , POLR3B 99.98 0 , ATP1A1 99.98 0 , BSCL2 99.98 0 , CLTCL1 99.98 0 , MME 99.99 0 , SCN10A 99.99 0 , SLC25A46 99.99 0 , HADHB 99.99 0 , CCT5 99.99 0 , HK1 99.99 0 , KIF5A 99.99 0 , CADM3 99.99 0 , ATL3 99.99 0 , MTMR2 99.99 0 , SPG11 99.99 0 , SETX 99.99 0 , SBF2 99.99 0 , SCN9A 99.99 0 , SLC52A3 99.99 0 , ARHGEF10 99.99 0 , AIFM1 99.99 0 , MORC2 99.99 0 , DHTKD1 99.99 0 , HEXA 99.99 0 , MARS1 99.99 0 , SLC12A6 99.99 0 , ATL1 99.99 0 , COX6A1 99.99 0 , WARS1 99.99 0 , PDXK 99.99 0 , BAG3 99.99 0 , HSPB3 99.99 0 , MED25 99.99 0 , ELP1 99.99 0 , EGR2 99.99 0 , TUBB3 99.99 0 , HNRNPA1 99.99 0 , FBXO38 99.99 0 , YARS1 99.99 0 , SPTAN1 99.99 0 , ATP7A 99.99 0 , VRK1 99.99 0 , SCP2 99.99 0 , MFN2 99.99 0 , DNAJB2 99.99 0 , TTR 99.99 0 , TDP1 99.99 0 , LMNA 99.99 0 , DYNC1H1 99.99 0 , CFAP276 99.99 0 , GNB4 99.99 0 , TWNK 99.99 0 , SGPL1 99.99 0 , HADHA 99.99 0 , MCM3AP 99.99 0 , COA7 99.99 0 , CYP27A1 100.00 0 , GBF1 100.00 0 , SLC5A7 100.00 0 , LRSAM1 100.00 0 , SPTLC3 100.00 0 , DCAF8 100.00 0 , FIG4 100.00 0 , DST 100.00 0 , DCTN1 100.00 0 , TRIM2 100.00 0 , TRPV4 100.00 0 , WNK1 100.00 0 , TBCK 100.00 0 , PPOX 100.00 0 , OPA1 100.00 0 , ZFHX2 100.00 0 , SH3TC2 100.00 0 , IGHMBP2 100.00 0 , DCTN2 100.00 0 , GDAP1 100.00 0 , GJB3 100.00 0 , GLA 100.00 0 , HEXB 100.00 0 , HINT1 100.00 0 , HMBS 100.00 0 , HOXD10 100.00 0 , HSPB8 100.00 0 , LITAF 100.00 0 , MPV17 100.00 0 , MTRFR 100.00 0 , NGF 100.00 0 , OPA3 100.00 0 , PLD3 100.00 0 , PMP22 100.00 0 , PNKP 100.00 0 , PTRH2 100.00 0 , RAB7A 100.00 0 , SCO2 100.00 0 , SIGMAR1 100.00 0 , SLC52A2 100.00 0 , VAPB 100.00 0 ,