- Genetic tests
- Neuropathy (gene panel)
Neuropathy (gene panel)
Full name: |
Neuropathy (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,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2022-10-07 / 2027-10-06
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Turnaround time (maximum): |
2 - 6 months
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Document(s): | |
Created: |
08 Aug 2019 - 11:18
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Changed: |
30 Jan 2024 - 09:04
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- 2-aminoadipic 2-oxoadipic aciduria
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Ataxia-oculomotor apraxia type 1
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant Charcot-Marie-Tooth disease type 2B
- Autosomal dominant Charcot-Marie-Tooth disease type 2C
- Autosomal dominant Charcot-Marie-Tooth disease type 2D
- 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 2L
- 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 2Q
- Autosomal dominant Charcot-Marie-Tooth disease type 2U
- 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 Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- 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 intermediate Charcot-Marie-Tooth disease type E
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
- Autosomal dominant slowed nerve conduction velocity
- Autosomal recessive Charcot-Marie-Tooth disease type 2X
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- 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 intermediate Charcot-Marie-Tooth disease type C
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Autosomal recessive lower motor neuron disease with childhood onset
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Behavioral variant of frontotemporal dementia
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1C
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 2B2
- Charcot-Marie-Tooth disease type 2B5
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 2P
- Charcot-Marie-Tooth disease type 2R
- Charcot-Marie-Tooth disease type 2S
- Charcot-Marie-Tooth disease type 2T
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4D
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4F
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Combined oxidative phosphorylation defect type 7
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Corpus callosum agenesis-neuronopathy syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- DNAJB2-related Charcot-Marie-Tooth disease type 2
- 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
- Distal hereditary motor neuropathy type 7
- Distal hereditary motor neuropathy, Jerash type
- Dravet syndrome
- Familial dysautonomia
- Frontotemporal dementia with motor neuron disease
- Giant axonal neuropathy
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary neuropathy with liability to pressure palsies
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Hereditary sensory and autonomic neuropathy type 1
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 4
- Hereditary sensory and autonomic neuropathy type 5
- Hereditary sensory and autonomic neuropathy type 6
- Hereditary sensory and autonomic neuropathy type 7
- Hereditary sensory and autonomic neuropathy type 8
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Huntington disease-like syndrome due to C9ORF72 expansions
- Juvenile amyotrophic lateral sclerosis
- MME-related autosomal dominant Charcot Marie Tooth disease type 2
- Menkes disease
- Mitochondrial neurogastrointestinal encephalomyopathy
- Neuropathy with hearing impairment
- Occipital horn syndrome
- PEHO syndrome
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Perry syndrome
- Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- Progressive non-fluent aphasia
- Refsum disease
- Scapuloperoneal spinal muscular atrophy
- Semantic dementia
- Severe neurodegenerative syndrome with lipodystrophy
- Spinal muscular atrophy with respiratory distress type 1
- Spinocerebellar ataxia type 18
- Spinocerebellar ataxia with axonal neuropathy type 1
- Spondyloepimetaphyseal dysplasia, Bieganski type
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 4
- X-linked Charcot-Marie-Tooth disease type 5
- X-linked Charcot-Marie-Tooth disease type 6
- X-linked distal spinal muscular atrophy type 3
- X-linked hereditary sensory and autonomic neuropathy with deafness
- Young adult-onset distal hereditary motor neuropathy
- AAAS
- AARS1
- ABHD12
- AIFM1
- ALS2
- ANG
- ANXA11
- APTX
- ARHGEF10
- ATL1
- ATL3
- ATP1A1
- ATP7A
- BICD2
- BSCL2
- CNTNAP1
- COA8
- COL4A1
- COX6A1
- CTDP1
- DCAF8
- DCTN1
- DCX
- DHTKD1
- DNAJB2
- DNM2
- DNMT1
- DST
- DYNC1H1
- EGR2
- ELP1
- ERBB4
- FBLN5
- FBXO38
- FGD4
- FIG4
- FUS
- GAN
- GARS1
- GBF1
- GCH1
- GDAP1
- GJB1
- GJB3
- GLA
- GNB4
- HARS1
- HINT1
- HK1
- HOXD10
- HSPB1
- HSPB3
- HSPB8
- HTRA1
- IFRD1
- IGHMBP2
- INF2
- KARS1
- KIF1A
- KIF1B
- KIF5A
- KLC2
- LITAF
- LMNA
- LRSAM1
- MARS1
- MATR3
- MCM3AP
- MED25
- MFN2
- MME
- MORC2
- MPV17
- MPZ
- MTMR2
- MTRFR
- MYH14
- NAGLU
- NDRG1
- NEFH
- NEFL
- NEK1
- NFASC
- NGF
- NTRK1
- OPTN
- PDK3
- PDXK
- PEX1
- PEX7
- PFN1
- PHYH
- PLEKHG5
- PMP2
- PMP22
- PNKP
- POLG
- PRDM12
- PRPH
- PRPS1
- PRX
- PTRH2
- RAB7A
- REEP1
- RETREG1
- SBF1
- SBF2
- SCN10A
- SCN11A
- SCN9A
- SCO2
- SEPTIN9
- SETX
- SGPL1
- SH3TC2
- SIGMAR1
- SLC12A6
- SLC25A46
- SLC5A7
- SMN1
- SOD1
- SORD
- SOX10
- SPG11
- SPTLC1
- SPTLC2
- SQSTM1
- SURF1
- SYT2
- TARDBP
- TDP1
- TECPR2
- TFG
- TIA1
- TRIM2
- TRPA1
- TRPV4
- TTR
- TUBA1A
- TUBA4A
- TUBB3
- TYMP
- UBQLN2
- VAPB
- VCP
- WARS1
- WNK1
- YARS1
-
Neuropathy (148 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD12 100.00 1 NM_001042472.3 AIFM1 100.00 1 NM_004208.4 APTX 100.00 1 NM_001195248.2 ARHGEF10 100.00 1 NM_014629.4 ATL1 100.00 1 NM_015915.5 ATP1A1 100.00 1 NM_000701.8 ATP7A 100.00 1 NM_000052.7 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 COX6A1 100.00 1 NM_004373.4 CTDP1 100.00 1 NM_004715.5 DCTN1 100.00 1 NM_004082.4 DHTKD1 100.00 1 NM_018706.7 DNAJB2 100.00 1 NM_006736.6 DNM2 100.00 1 NM_001005361.3 DNMT1 99.93 1 NM_001130823.3 DST 100.00 1 NM_001144770.2 DYNC1H1 100.00 1 NM_001376.5 EGR2 100.00 1 NM_000399.5 ELP1 100.00 1 NM_003640.5 FBLN5 100.00 1 NM_006329.3 FBXO38 100.00 1 NM_205836.3 FGD4 100.00 1 NM_001304480.1 FIG4 100.00 1 NM_014845.6 GAN 100.00 1 NM_022041.3 GARS1 100.00 1 NM_002047.4 GDAP1 100.00 1 NM_018972.4 GJB1 100.00 1 NM_000166.6 GJB3 100.00 1 NM_024009.3 GNB4 100.00 1 NM_021629.4 HARS1 100.00 1 NM_002109.6 HINT1 100.00 1 NM_005340.7 HK1 100.00 1 NM_001358263.1 HOXD10 100.00 1 NM_002148.4 HSPB1 100.00 1 NM_001540.5 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 IFRD1 100.00 1 NM_001007245.2 IGHMBP2 100.00 1 NM_002180.3 INF2 99.00 1 NM_022489.4 KARS1 100.00 1 NM_001130089.1 KIF1A 100.00 1 NM_001244008.1 KIF1B 100.00 1 NM_015074.3 KIF5A 100.00 1 NM_004984.4 LITAF 100.00 1 NM_001136472.1 LMNA 100.00 1 NM_170707.4 LRSAM1 100.00 1 NM_001005373.3 MARS1 100.00 1 NM_004990.4 MED25 100.00 1 NM_030973.3 MFN2 100.00 1 NM_014874.4 MME 100.00 1 NM_007289.4 MORC2 100.00 1 NM_001303256.3 MPZ 100.00 1 NM_000530.8 MTMR2 100.00 1 NM_016156.6 MYH14 100.00 1 NM_001145809.2 NAGLU 100.00 1 NM_000263.4 NDRG1 100.00 1 NM_006096.4 NEFH 100.00 1 NM_021076.4 NEFL 100.00 1 NM_006158.5 NGF 100.00 1 NM_002506.3 NTRK1 100.00 1 NM_002529.3 PDK3 100.00 1 NM_001142386.3 PEX1 100.00 1 NM_000466.3 PEX7 100.00 1 NM_000288.4 PHYH 100.00 1 NM_006214.4 PLEKHG5 100.00 1 NM_001265592.1 PMP22 100.00 1 NM_000304.4 POLG 100.00 1 NM_001126131.2 PRDM12 98.36 1 NM_021619.3 PRPS1 100.00 1 NM_002764.4 PRX 100.00 1 NM_181882.3 RAB7A 100.00 1 NM_004637.6 REEP1 100.00 1 NM_001371279.1 RETREG1 100.00 1 NM_001034850.2 SBF1 100.00 1 NM_002972.4 SBF2 100.00 1 NM_030962.3 SCN11A 100.00 1 NM_001349253.2 SCN9A 100.00 1 NM_001365536.1 SCO2 100.00 1 NM_005138.3 SETX 100.00 1 NM_015046.7 SH3TC2 100.00 1 NM_024577.4 SLC12A6 100.00 1 NM_001365088.1 SLC5A7 100.00 1 NM_021815.5 SOX10 100.00 1 NM_006941.4 SPG11 100.00 1 NM_025137.4 SPTLC1 100.00 1 NM_006415.4 SPTLC2 100.00 1 NM_004863.3 TDP1 100.00 1 NM_018319.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 TRIM2 100.00 1 NM_015271.5 TRPV4 100.00 1 NM_021625.5 TTR 100.00 1 NM_000371.4 TUBB3 100.00 1 NM_006086.4 TYMP 100.00 1 NM_001257989.1 VCP 100.00 1 NM_007126.5 WNK1 100.00 1 NM_018979.4 YARS1 100.00 1 NM_003680.3 AAAS 100.00 1 NM_015665.6 ALS2 100.00 1 NM_020919.4 ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 ATL3 100.00 1 NM_015459.5 CNTNAP1 100.00 1 NM_003632.3 COA8 100.00 1 NM_001370595.1 COL4A1 100.00 1 NM_001845.6 DCAF8 100.00 1 NM_015726.4 DCX 100.00 1 NM_001195553.2 ERBB4 100.00 1 NM_005235.3 FUS 100.00 1 NM_004960.4 GBF1 100.00 1 NM_004193.3 GCH1 100.00 1 NM_000161.3 GLA 100.00 1 NM_000169.3 HTRA1 100.00 1 NM_002775.5 KLC2 100.00 1 NM_001134775.1 MATR3 100.00 1 NM_018834.6 MCM3AP 100.00 1 NM_003906.5 MPV17 100.00 1 NM_002437.5 NEK1 100.00 1 NM_001199397.3 NFASC 100.00 1 NM_001005388.2 OPTN 100.00 1 NM_001008212.2 PDXK 100.00 1 NM_003681.5 PFN1 100.00 1 NM_005022.4 PMP2 100.00 1 NM_002677.5 PNKP 100.00 1 NM_007254.4 PRPH 100.00 1 NM_006262.4 PTRH2 100.00 1 NM_016077.5 SCN10A 100.00 1 NM_006514.3 SEPTIN9 100.00 1 NM_001113491.2 SGPL1 100.00 1 NM_003901.4 SIGMAR1 100.00 1 NM_005866.4 SLC25A46 100.00 1 NM_138773.4 SMN1 6.96 1 NM_000344.3 SOD1 100.00 1 NM_000454.5 SORD 94.98 1 NM_003104.6 SQSTM1 100.00 1 NM_003900.5 SURF1 100.00 1 NM_003172.4 SYT2 100.00 1 NM_177402.5 TARDBP 100.00 1 NM_007375.4 TIA1 100.00 1 NM_022173.4 TRPA1 100.00 1 NM_007332.3 TUBA1A 100.00 1 NM_006009.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 WARS1 100.00 1 NM_004184.4