- Genetic tests
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
Full name: |
Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2021-10-07 / 2026-06-14
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
27 Aug 2019 - 12:03
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Changed: |
09 Mar 2023 - 16:20
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URL: |
- Adult-onset distal myopathy due to VCP mutation
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Alpha-B crystallin-related late-onset myopathy
- Amish nemaline myopathy
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Atypical hemolytic-uremic syndrome with H factor anomaly
- Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant centronuclear myopathy
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant limb-girdle muscular dystrophy type 1C
- Autosomal recessive centronuclear myopathy
- Autosomal recessive lower motor neuron disease with childhood onset
- Autosomal recessive multiple pterygium syndrome
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Becker muscular dystrophy
- Bethlem myopathy
- Cap myopathy
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Childhood-onset nemaline myopathy
- Classic multiminicore myopathy
- Congenital fiber-type disproportion myopathy
- Congenital generalized hypercontractile muscle stiffness syndrome
- Congenital muscular dystrophy due to LMNA mutation
- Congenital muscular dystrophy with cerebellar involvement
- Congenital muscular dystrophy with intellectual disability
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital muscular dystrophy without intellectual disability
- Congenital muscular dystrophy, Fukuyama type
- Congenital muscular dystrophy, Ullrich type
- Congenital myasthenic syndromes with glycosylation defect
- Congenital myopathy with excess of thin filaments
- Congenital myopathy, Paradas type
- DK1-CDG
- DNAJB2-related Charcot-Marie-Tooth disease type 2
- DPAGT1-CDG
- DPM1-CDG
- DPM3-CDG
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Desmin-related myopathy with Mallory body-like inclusions
- Desminopathy
- Dihydropteridine reductase deficiency
- Distal arthrogryposis type 5D
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Distal hereditary motor neuropathy type 7
- Distal hereditary motor neuropathy, Jerash type
- Distal myopathy with anterior tibial onset
- Distal myopathy with posterior leg and anterior hand involvement
- Distal myopathy, Tateyama type
- Distal myopathy, Welander type
- Distal myotilinopathy
- Duchenne muscular dystrophy
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
- Epidermolysis bullosa simplex with muscular dystrophy
- Farber disease
- Fatal infantile hypertonic myofibrillar myopathy
- Fetal akinesia deformation sequence
- Fetal akinesia-cerebral and retinal hemorrhage syndrome
- Frontotemporal dementia with motor neuron disease
- GNE myopathy
- Genetic recurrent myoglobinuria
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Glycogen storage disease due to acid maltase deficiency, late-onset
- Glycogen storage disease due to aldolase A deficiency
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to muscle beta-enolase deficiency
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Glycogen storage disease due to muscle phosphofructokinase deficiency
- Glycogen storage disease due to muscle phosphorylase kinase deficiency
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Glycogen storage disease due to phosphoglycerate mutase deficiency
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary myopathy with lactic acidosis due to ISCU deficiency
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Infantile-onset X-linked spinal muscular atrophy
- Infantile-onset ascending hereditary spastic paralysis
- Intermediate nemaline myopathy
- Juvenile amyotrophic lateral sclerosis
- Juvenile primary lateral sclerosis
- KLHL9-related early-onset distal myopathy
- Laing early-onset distal myopathy
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Lethal multiple pterygium syndrome
- MYH7-related late-onset scapuloperoneal muscular dystrophy
- Marinesco-Sjögren syndrome
- Megaconial congenital muscular dystrophy
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Mitochondrial trifunctional protein deficiency
- Miyoshi myopathy
- Multiple acyl-CoA dehydrogenase deficiency, mild type
- Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
- Muscle filaminopathy
- Muscle-eye-brain disease
- Muscular dystrophy, Selcen type
- Myosclerosis
- Neurogenic scapuloperoneal syndrome, Kaeser type
- Oculopharyngeal muscular dystrophy
- PGM1-CDG
- Paramyotonia congenita of Von Eulenburg
- Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Perry syndrome
- Pontocerebellar hypoplasia type 1
- Postsynaptic congenital myasthenic syndromes
- Presynaptic congenital myasthenic syndromes
- Primary dystonia, DYT27 type
- Progressive scapulohumeroperoneal distal myopathy
- Proximal myopathy with focal depletion of mitochondria
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy type 2
- Proximal spinal muscular atrophy type 3
- Proximal spinal muscular atrophy type 4
- Reducing body myopathy
- Rippling muscle disease
- Sandhoff disease, adult form
- Sandhoff disease, infantile form
- Sandhoff disease, juvenile form
- Severe congenital nemaline myopathy
- Severe neurodegenerative syndrome with lipodystrophy
- Sheldon-Hall syndrome
- Spinal muscular atrophy with respiratory distress type 2
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Spinocerebellar ataxia type 2
- Synaptic congenital myasthenic syndromes
- Tibial muscular dystrophy
- Typical nemaline myopathy
- Very long chain acyl-CoA dehydrogenase deficiency
- Vocal cord and pharyngeal distal myopathy
- Walker-Warburg syndrome
- X-linked Emery-Dreifuss muscular dystrophy
- X-linked centronuclear myopathy
- X-linked distal spinal muscular atrophy type 3
- X-linked myopathy with postural muscle atrophy
- X-linked myotubular myopathy-abnormal genitalia syndrome
- X-linked scapuloperoneal muscular dystrophy
- Young adult-onset distal hereditary motor neuropathy
- Zebra body myopathy
- ACADVL
- ACTA1
- AGRN
- ALDOA
- ALG14
- ALG2
- ALS2
- ANG
- ANO5
- ASAH1
- ATP7A
- ATXN2
- B3GALNT2
- B4GAT1
- BAG3
- BICD2
- BIN1
- BSCL2
- C9ORF72
- CAV3
- CFH
- CFL2
- CHAT
- CHKB
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- COL6A1
- COL6A2
- COL6A3
- COLQ
- CORIN
- CPT2
- CRPPA
- CRYAB
- DAG1
- DAO
- DCTN1
- DES
- DGUOK
- DMD
- DNAJB2
- DNAJB6
- DNM2
- DOK7
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DYNC1H1
- DYSF
- ECEL1
- EMD
- ENO3
- ETFA
- ETFB
- ETFDH
- EXOSC3
- FBLN5
- FBXO38
- FDX2
- FKRP
- FKTN
- FLNC
- FUS
- GAA
- GARS1
- GFPT1
- GLE1
- GMPPB
- GNE
- GRN
- HADHA
- HADHB
- HARS1
- HEXB
- HNRNPA1
- HNRNPA2B1
- HSPB1
- HSPB3
- HSPB8
- IGHMBP2
- ISCU
- KBTBD13
- KLHL40
- KLHL9
- LAMA2
- LAMB2
- LARGE1
- LAS1L
- LDB3
- LMNA
- LPIN1
- MATR3
- MEGF10
- MTM1
- MUSK
- MYBPC3
- MYH3
- MYH7
- MYH7B
- MYH8
- MYOT
- NEB
- NEFH
- OPTN
- PABPN1
- PFKM
- PFN1
- PGAM2
- PGK1
- PGM1
- PHKA1
- PHKB
- PLEC
- PLEKHG5
- POLG
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- PREPL
- PYGM
- QDPR
- RAPSN
- REEP1
- RXYLT1
- RYR1
- SCN4A
- SELENON
- SETX
- SIGMAR1
- SIL1
- SLC18A3
- SLC52A2
- SLC52A3
- SLC5A7
- SMN1
- SNAP25
- SOD1
- SQSTM1
- SYT2
- TAF15
- TARDBP
- TFG
- TIA1
- TNNI2
- TNNT1
- TNNT3
- TNPO3
- TPM2
- TPM3
- TRPV4
- TSEN54
- TTN
- UBA1
- UBQLN2
- UNC13A
- VAPB
- VCP
- VEGFA
- VRK1
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Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment