- Genetic tests
- Spastic Paraplegia (gene panel)
Spastic Paraplegia (gene panel)
Full name: |
Spastic Paraplegia (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 - 11:31
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Changed: |
30 Jan 2024 - 09:04
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- 3C syndrome
- Allan-Herndon-Dudley syndrome
- Ataxia-hypogonadism-choroidal dystrophy syndrome
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 31
- Autosomal dominant spastic paraplegia type 4
- Autosomal dominant spastic paraplegia type 42
- Autosomal dominant spastic paraplegia type 6
- Autosomal dominant spastic paraplegia type 8
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 15
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 43
- Autosomal recessive spastic paraplegia type 44
- Autosomal recessive spastic paraplegia type 45
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 53
- Autosomal recessive spastic paraplegia type 54
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 56
- Autosomal recessive spastic paraplegia type 57
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 61
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 63
- Autosomal recessive spastic paraplegia type 64
- Autosomal recessive spastic paraplegia type 66
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 75
- Autosomal spastic paraplegia type 18
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Autosomal spastic paraplegia type 72
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
- Cerebellar ataxia-hypogonadism syndrome
- Fatty acid hydroxylase-associated neurodegeneration
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Hereditary sensory and autonomic neuropathy type 1
- Infantile-onset ascending hereditary spastic paralysis
- Inherited congenital spastic tetraplegia
- Juvenile amyotrophic lateral sclerosis
- Juvenile primary lateral sclerosis
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- Oculodentodigital dysplasia
- Pontocerebellar hypoplasia type 9
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Severe intellectual disability and progressive spastic paraplegia
- Spastic paraplegia type 2
- Spastic paraplegia type 7
- Spastic paraplegia-Paget disease of bone syndrome
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- Spinocerebellar ataxia with axonal neuropathy type 2
- X-linked complicated spastic paraplegia type 1
- X-linked spastic paraplegia type 34
- ADAR
- AFG3L2
- ALDH18A1
- ALDH3A2
- ALS2
- AMPD2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- ARL6IP1
- ARSI
- ATL1
- ATXN1
- B4GALNT1
- BICD2
- BSCL2
- C19ORF12
- CAPN1
- CCT5
- COA8
- CPT1C
- CYP27A1
- CYP2U1
- CYP7B1
- DDHD1
- DDHD2
- DSTYK
- ENTPD1
- ERLIN1
- ERLIN2
- FA2H
- FARS2
- FLRT1
- GAD1
- GBA2
- GFAP
- GJA1
- GJC2
- GLRX5
- HACE1
- HSPD1
- IBA57
- ITPR1
- KIDINS220
- KIF1A
- KIF1C
- KIF5A
- KLC2
- KLC4
- L1CAM
- MAG
- MARS1
- MTRFR
- NIPA1
- NT5C2
- PCYT2
- PGAP1
- PLP1
- PNPLA6
- RAB18
- RAB3GAP1
- RAB3GAP2
- REEP1
- REEP2
- RTN2
- SACS
- SETX
- SLC16A2
- SLC33A1
- SPART
- SPAST
- SPG11
- SPG21
- SPG7
- TBC1D20
- TECPR2
- TFG
- UBAP1
- UCHL1
- USP8
- VCP
- VPS37A
- WASHC5
- WDR48
- ZFR
- ZFYVE26
- ZFYVE27
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Spastic Paraplegia (89 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALS2 100.00 1 NM_020919.4 AMPD2 100.00 1 NM_001368809.2 AP4B1 100.00 1 NM_001253852.3 AP4E1 100.00 1 NM_007347.5 AP4M1 100.00 1 NM_004722.4 AP4S1 100.00 1 NM_001128126.3 AP5Z1 100.00 1 NM_014855.3 ARL6IP1 100.00 1 NM_015161.3 ARSI 100.00 1 NM_001012301.4 ATL1 100.00 1 NM_015915.5 B4GALNT1 100.00 1 NM_001478.5 BICD2 100.00 1 NM_001003800.2 BSCL2 100.00 1 NM_001122955.3 MTRFR 100.00 1 NM_152269.5 C19ORF12 100.00 1 NM_031448.6 CCT5 100.00 1 NM_012073.5 CYP2U1 100.00 1 NM_183075.3 CYP7B1 100.00 1 NM_004820.5 DDHD1 100.00 1 NM_001160148.2 DDHD2 100.00 1 NM_015214.3 ENTPD1 100.00 1 NM_001776.6 ERLIN1 100.00 1 NM_006459.4 ERLIN2 100.00 1 NM_007175.8 FA2H 100.00 1 NM_024306.5 FLRT1 100.00 1 NM_013280.4 GAD1 100.00 1 NM_000817.3 GBA2 100.00 1 NM_020944.3 GJA1 100.00 1 NM_000165.5 GJC2 100.00 1 NM_020435.4 HSPD1 100.00 1 NM_002156.5 KIF1A 100.00 1 NM_001244008.1 KIF1C 100.00 1 NM_006612.6 KIF5A 100.00 1 NM_004984.4 L1CAM 100.00 1 NM_001278116.2 MAG 100.00 1 NM_002361.4 MARS1 100.00 1 NM_004990.4 NIPA1 100.00 1 NM_144599.5 NT5C2 100.00 1 NM_001351169.2 PGAP1 100.00 1 NM_024989.4 PLP1 100.00 1 NM_000533.5 PNPLA6 100.00 1 NM_001166111.2 RAB3GAP2 100.00 1 NM_012414.4 REEP1 100.00 1 NM_001371279.1 REEP2 100.00 1 NM_001271803.2 RTN2 100.00 1 NM_005619.5 SACS 100.00 1 NM_014363.6 SETX 100.00 1 NM_015046.7 SLC16A2 100.00 1 NM_006517.5 SLC33A1 100.00 1 NM_004733.4 SPART 100.00 1 NM_015087.5 SPAST 100.00 1 NM_014946.3 SPG11 100.00 1 NM_025137.4 SPG21 100.00 1 NM_016630.7 SPG7 100.00 1 NM_003119.4 TECPR2 100.00 1 NM_014844.5 TFG 100.00 1 NM_006070.6 USP8 100.00 1 NM_005154.5 VCP 100.00 1 NM_007126.5 VPS37A 100.00 1 NM_152415.3 WASHC5 100.00 1 NM_014846.4 WDR48 100.00 1 NM_020839.4 ZFR 100.00 1 NM_016107.5 ZFYVE26 100.00 1 NM_015346.4 ADAR 100.00 1 NM_001111.5 AFG3L2 100.00 1 NM_006796.3 ALDH18A1 100.00 1 NM_002860.4 ALDH3A2 100.00 1 NM_000382.3 ATXN1 100.00 1 NM_000332.3 CAPN1 100.00 1 NM_005186.4 COA8 100.00 1 NM_001370595.1 CPT1C 100.00 1 NM_001199753.1 CYP27A1 100.00 1 NM_000784.4 DSTYK 100.00 1 NM_015375.3 FARS2 100.00 1 NM_006567.5 GFAP 100.00 1 NM_002055.5 GLRX5 100.00 1 NM_016417.3 HACE1 100.00 1 NM_020771.4 IBA57 100.00 1 NM_001010867.4 ITPR1 100.00 1 NM_001168272.1 KIDINS220 100.00 1 NM_020738.4 KLC2 100.00 1 NM_001134775.1 KLC4 100.00 1 NM_201521.3 PCYT2 100.00 1 NM_002861.5 RAB18 100.00 1 NM_021252.5 RAB3GAP1 100.00 1 NM_012233.3 TBC1D20 100.00 1 NM_144628.4 UBAP1 100.00 1 NM_016525.5 UCHL1 100.00 1 NM_004181.5 ZFYVE27 100.00 1 NM_001002261.3