- Genetic tests
- Neurodegeneration (gene panel)
Neurodegeneration (gene panel)
Full name: |
Neurodegeneration (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: |
26 Nov 2019 - 14:49
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Changed: |
30 Jan 2024 - 09:04
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- ATP13A2-related juvenile neuronal ceroid lipofuscinosis
- Adult-onset distal myopathy due to VCP mutation
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant spastic paraplegia type 10
- Autosomal recessive spastic paraplegia type 11
- Behavioral variant of frontotemporal dementia
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- Classic progressive supranuclear palsy syndrome
- Distal hereditary motor neuropathy type 7
- Distal hereditary motor neuropathy, Jerash type
- Early-onset autosomal dominant Alzheimer disease
- Familial Alzheimer-like prion disease
- Fatal familial insomnia
- Fetal Gaucher disease
- Frontotemporal dementia with motor neuron disease
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- Gerstmann-Straussler-Scheinker syndrome
- Hereditary late-onset Parkinson disease
- Huntington disease-like 1
- Huntington disease-like syndrome due to C9ORF72 expansions
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Inherited Creutzfeldt-Jakob disease
- Juvenile amyotrophic lateral sclerosis
- Kufor-Rakeb syndrome
- Kuru
- Parkinson-dementia complex of Guam
- Parkinsonian-pyramidal syndrome
- Perry syndrome
- Progressive non-fluent aphasia
- Progressive supranuclear palsy-corticobasal syndrome
- Progressive supranuclear palsy-parkinsonism syndrome
- Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
- Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
- Semantic dementia
- Spastic paraplegia-Paget disease of bone syndrome
- Spinocerebellar ataxia with axonal neuropathy type 2
- Young-onset Parkinson disease
- AARS2
- ABAT
- ABCB7
- ABCD1
- ADPRS
- AFG3L2
- ANG
- ANXA11
- AP5Z1
- APOE
- APP
- ARSA
- ATP13A2
- ATP1A3
- ATP6AP2
- C19ORF12
- C9ORF72
- CCNF
- CHCHD10
- CHCHD2
- CHMP2B
- CLN3
- CLN5
- CLN6
- CLN8
- COA7
- COASY
- CRAT
- CSF1R
- CTSD
- CTSF
- DCTN1
- DNAJC13
- DNAJC5
- DNAJC6
- EIF4G1
- ERBB4
- FA2H
- FBXO7
- FIG4
- FTL
- FUS
- FXN
- GBA1
- GCH1
- GIGYF2
- GLUD2
- GRID2
- GRN
- IREB2
- ITM2B
- KIF5A
- KLC4
- LRRK2
- MAPT
- MATR3
- MFSD8
- NEFH
- NEK1
- NOTCH3
- NPC1
- NPC2
- OPTN
- PANK2
- PARK7
- PFN1
- PGAP1
- PINK1
- PLA2G6
- PODXL
- POLG
- PPT1
- PRKN
- PRNP
- PRPH
- PSEN1
- PSEN2
- RAB18
- REPS1
- SETX
- SIGMAR1
- SLC6A3
- SNCA
- SOD1
- SPG11
- SPG21
- SQSTM1
- SYNJ1
- TARDBP
- TBK1
- TUBA4A
- UBQLN2
- UBTF
- UCHL1
- VAPB
- VCP
- VPS13C
- VPS35
- WDR45
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Neurodegeneration (99 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 APP 100.00 1 NM_000484.4 ATP13A2 100.00 1 NM_022089.4 CHMP2B 100.00 1 NM_014043.4 DCTN1 100.00 1 NM_004082.4 ERBB4 100.00 1 NM_005235.3 FIG4 100.00 1 NM_014845.6 FUS 100.00 1 NM_004960.4 GBA1 100.00 1 NM_000157.4 GRN 100.00 1 NM_002087.3 KIF5A 100.00 1 NM_004984.4 LRRK2 100.00 1 NM_198578.4 MAPT 100.00 1 NM_001123066.3 MATR3 100.00 1 NM_018834.6 NEFH 100.00 1 NM_021076.4 NEK1 100.00 1 NM_001199397.3 NOTCH3 100.00 1 NM_000435.3 OPTN 100.00 1 NM_001008212.2 PARK7 100.00 1 NM_007262.5 PFN1 100.00 1 NM_005022.4 PINK1 100.00 1 NM_032409.3 PRKN 100.00 1 NM_004562.3 PRNP 100.00 1 NM_000311.5 PRPH 100.00 1 NM_006262.4 PSEN1 100.00 1 NM_000021.4 PSEN2 100.00 1 NM_000447.3 SETX 100.00 1 NM_015046.7 SIGMAR1 100.00 1 NM_005866.4 SNCA 100.00 1 NM_000345.4 SOD1 100.00 1 NM_000454.5 SPG11 100.00 1 NM_025137.4 TARDBP 100.00 1 NM_007375.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 VCP 100.00 1 NM_007126.5 AARS2 100.00 1 NM_020745.4 ABAT 100.00 1 NM_020686.6 ABCB7 100.00 1 NM_001271696.3 ABCD1 100.00 1 NM_000033.4 ADPRS 100.00 1 NM_017825.3 AFG3L2 100.00 1 NM_006796.3 AP5Z1 100.00 1 NM_014855.3 APOE 100.00 1 NM_000041.4 ARSA 100.00 1 NM_000487.6 ATP1A3 100.00 1 NM_152296.5 ATP6AP2 100.00 1 NM_005765.3 C19ORF12 100.00 1 NM_031448.6 C9ORF72 100.00 1 NM_018325.5 CCNF 100.00 1 NM_001761.3 CHCHD10 100.00 1 NM_213720.3 CHCHD2 100.00 1 NM_016139.4 CLN3 100.00 1 NM_001042432.2 CLN5 100.00 1 NM_006493.4 CLN6 100.00 1 NM_017882.3 CLN8 100.00 1 NM_018941.4 COA7 100.00 1 NM_023077.3 COASY 100.00 1 NM_025233.7 CRAT 100.00 1 NM_000755.5 CSF1R 100.00 1 NM_005211.3 CTSD 100.00 1 NM_001909.5 CTSF 100.00 1 NM_003793.4 DNAJC13 100.00 1 NM_015268.4 DNAJC5 100.00 1 NM_025219.3 DNAJC6 100.00 1 NM_001256864.2 EIF4G1 100.00 1 NM_198241.3 FA2H 100.00 1 NM_024306.5 FBXO7 100.00 1 NM_012179.4 FTL 100.00 1 NM_000146.4 FXN 100.00 1 NM_000144.5 GCH1 100.00 1 NM_000161.3 GIGYF2 100.00 1 NM_001103146.3 GLUD2 100.00 1 NM_012084.4 GRID2 100.00 1 NM_001510.4 IREB2 100.00 1 NM_004136.4 ITM2B 100.00 1 NM_021999.5 KLC4 100.00 1 NM_201521.3 MFSD8 100.00 1 NM_001371596.2 NPC1 100.00 1 NM_000271.5 NPC2 100.00 1 NM_006432.5 PANK2 100.00 1 NM_153638.3 PGAP1 100.00 1 NM_024989.4 PLA2G6 100.00 1 NM_003560.4 PODXL 94.00 1 NM_001018111.3 POLG 100.00 1 NM_001126131.2 PPT1 100.00 1 NM_000310.4 RAB18 100.00 1 NM_021252.5 REPS1 100.00 1 NM_001286611.1 SLC6A3 100.00 1 NM_001044.5 SPG21 100.00 1 NM_016630.7 SQSTM1 100.00 1 NM_003900.5 SYNJ1 100.00 1 NM_003895.3 TBK1 100.00 1 NM_013254.4 UBTF 100.00 1 NM_014233.4 UCHL1 100.00 1 NM_004181.5 VPS13C 100.00 1 NM_020821.3 VPS35 100.00 1 NM_018206.6 WDR45 100.00 1 NM_001029896.2