- Genetic tests
- Hereditary Spastic Paraplegia (gene panel)
Hereditary Spastic Paraplegia (gene panel)
Full name: |
Hereditary 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): |
2024-02-15 / 2028-11-08
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
11 Dec 2020 - 09:38
|
Changed: |
13 Mar 2024 - 11:52
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URL: |
- Alpers-Huttenlocher syndrome
- Ataxia with vitamin E deficiency
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 12
- 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 73
- Autosomal dominant spastic paraplegia type 8
- Autosomal dominant spastic paraplegia type 9A
- Autosomal dominant spastic paraplegia type 9B
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- 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 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 46
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 76
- Autosomal recessive spastic paraplegia type 77
- Autosomal recessive spastic paraplegia type 78
- Autosomal recessive spastic paraplegia type 9B
- Autosomal spastic paraplegia type 18
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Autosomal spastic paraplegia type 72
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Severe intellectual disability and progressive spastic paraplegia
- Spastic paraplegia type 2
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spinocerebellar ataxia with axonal neuropathy type 2
- Wilson disease
- X-linked complicated spastic paraplegia type 1
- AAAS
- ABCB7
- ABCD1
- ABHD12
- ABHD16A
- AFG3L2
- AIFM1
- AIMP1
- ALDH18A1
- ALS2
- AMPD2
- ANO10
- AP1S2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- APTX
- ARG1
- ARL6IP1
- ARSA
- ATCAY
- ATG7
- ATL1
- ATM
- ATP13A2
- ATP1A3
- ATP2B3
- ATP5MC3
- ATP7B
- ATP8A2
- AUH
- B4GALNT1
- BSCL2
- BTD
- C19ORF12
- CA8
- CACNA1A
- CACNA1G
- CACNA2D2
- CAMTA1
- CAPN1
- CASK
- CCT5
- CHMP1A
- CLCN2
- CLN6
- CLP1
- COA7
- COASY
- COG5
- COQ8A
- COX20
- CPT1C
- CTNNB1
- CWF19L1
- CYP27A1
- CYP2U1
- CYP7B1
- DARS1
- DARS2
- DDHD1
- DDHD2
- DNAJC5
- DNMT1
- EEF2
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- ELOVL4
- ELOVL5
- ENTPD1
- ERLIN1
- ERLIN2
- EXOSC3
- EXOSC8
- EXOSC9
- FA2H
- FAR1
- FARS2
- FAT2
- FGF14
- FLVCR1
- GALC
- GBA2
- GCH1
- GDAP2
- GFAP
- GJC2
- GLRX5
- GOSR2
- GPAA1
- GRID2
- GRM1
- HACE1
- HEXA
- HEXB
- HIKESHI
- HPDL
- HSPD1
- IBA57
- IFRD1
- INPP5E
- IRF2BPL
- ITPR1
- KCNA1
- KCNA2
- KCNC3
- KCND3
- KIDINS220
- KIF1A
- KIF1C
- KIF5A
- KPNA3
- L1CAM
- MAG
- MARS2
- MMACHC
- MRE11
- MSTO1
- MTRFR
- MTTP
- NIPA1
- NKX6-2
- NPC1
- NPC2
- NPTX1
- NT5C2
- OPA1
- OPA3
- PCDH12
- PCYT2
- PDYN
- PEX7
- PGAP1
- PHYH
- PLA2G6
- PLP1
- PMPCA
- PMPCB
- PNKP
- PNPLA6
- POLG
- POLR3A
- PRICKLE1
- PRKCG
- PUM1
- RARS2
- REEP1
- REEP2
- RFC1
- RNF170
- RNF216
- RNF220
- RTN2
- RUBCN
- SACS
- SAMD9L
- SCN8A
- SCYL1
- SELENOI
- SEPSECS
- SETX
- SIL1
- SLC1A3
- SLC1A4
- SLC25A46
- SLC33A1
- SLC9A1
- SNX14
- SPART
- SPAST
- SPG11
- SPG21
- SPG7
- SPTAN1
- SPTBN2
- SQSTM1
- STUB1
- SYNE1
- TDP2
- TFG
- TGM6
- THG1L
- TMEM240
- TMEM63C
- TOE1
- TPP1
- TSEN2
- TSEN54
- TTBK2
- TTPA
- TUBB4A
- UBAP1
- UCHL1
- VAMP1
- VLDLR
- VPS13D
- VPS41
- VPS53
- VRK1
- WASHC5
- WDR45B
- WDR73
- WDR81
- ZFYVE26
-
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AMPD2 99.99 1 AP4B1 99.97 1 ATP13A2 99.98 1 CAMTA1 99.97 1 COA7 100.00 1 COQ8A 100.00 1 COX20 99.40 1 DARS2 99.86 1 EIF2B3 99.95 1 FLVCR1 99.93 1 GDAP2 99.96 1 GJC2 96.12 1 HPDL 100.00 1 IBA57 96.45 1 KCNA2 100.00 1 KCND3 100.00 1 MMACHC 99.99 1 MSTO1 98.87 1 PUM1 99.95 1 RNF220 99.95 1 SLC9A1 99.86 1 TMEM240 99.83 1 TOE1 99.99 1 VPS13D 99.85 1 ALDH18A1 99.96 1 CWF19L1 99.89 1 ENTPD1 99.90 1 ERLIN1 99.96 1 NKX6-2 96.38 1 NT5C2 99.89 1 PHYH 99.65 1 POLR3A 99.95 1 ATM 99.83 1 BSCL2 100.00 1 CAPN1 100.00 1 CLP1 100.00 1 FAR1 99.83 1 HIKESHI 99.89 1 MRE11 99.90 1 SCYL1 99.64 1 SPTBN2 99.99 1 TPP1 99.88 1 AAAS 99.98 1 B4GALNT1 99.95 1 EIF2B1 99.96 1 KCNA1 99.96 1 KIF5A 99.93 1 MTRFR 99.85 1 PRICKLE1 99.97 1 SCN8A 99.90 1 VAMP1 99.70 1 ATP7B 99.99 1 ATP8A2 99.96 1 EXOSC8 99.69 1 FGF14 99.79 1 KPNA3 99.96 1 SACS 99.98 1 SPART 99.99 1 AP4S1 87.70 1 ATL1 99.95 1 DDHD1 99.98 1 EIF2B2 99.84 1 GALC 99.88 1 GCH1 99.74 1 GLRX5 98.29 1 IRF2BPL 98.65 1 NPC2 99.99 1 TMEM63C 99.99 1 VRK1 99.94 1 ZFYVE26 99.96 1 AP4E1 99.89 1 CLN6 98.04 1 HEXA 99.98 1 NIPA1 96.26 1 POLG 99.98 1 SPG11 99.94 1 SPG21 99.99 1 TTBK2 99.88 1 WDR73 99.99 1 ARL6IP1 99.84 1 CHMP1A 100.00 1 FA2H 99.93 1 SPG7 99.99 1 STUB1 99.73 1 CACNA1G 99.89 1 COASY 99.98 1 GFAP 99.94 1 GOSR2 99.75 1 KIF1C 99.99 1 NPTX1 99.35 1 PCYT2 97.60 1 TSEN54 98.24 1 VPS53 99.98 1 WDR45B 99.96 1 WDR81 100.00 1 AFG3L2 99.82 1 NPC1 99.84 1 ATCAY 99.99 1 ATP1A3 99.99 1 C19ORF12 99.36 1 CACNA1A 99.66 1 CPT1C 99.99 1 DNMT1 99.88 1 EEF2 99.99 1 KCNC3 94.29 1 MAG 99.81 1 OPA3 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 PRKCG 99.90 1 RTN2 99.99 1 TUBB4A 98.81 1 ALS2 99.91 1 ATP5MC3 100.00 1 CYP27A1 99.96 1 DARS1 99.87 1 EIF2B4 99.94 1 HSPD1 99.95 1 KIDINS220 99.97 1 KIF1A 99.96 1 MARS2 100.00 1 PGAP1 99.64 1 REEP1 99.99 1 SELENOI 99.88 1 SLC1A4 99.95 1 SPAST 99.83 1 ABHD12 99.11 1 DNAJC5 99.99 1 PDYN 99.98 1 TGM6 100.00 1 ARSA 100.00 1 PLA2G6 99.98 1 ANO10 99.92 1 ATG7 99.98 1 BTD 99.99 1 CACNA2D2 99.32 1 CLCN2 99.97 1 CTNNB1 99.98 1 EIF2B5 99.95 1 ITPR1 99.94 1 OPA1 99.87 1 RUBCN 99.94 1 SLC33A1 99.82 1 TFG 99.34 1 TSEN2 86.92 1 AIMP1 99.90 1 CYP2U1 97.44 1 EXOSC9 99.86 1 GRID2 99.98 1 MTTP 99.96 1 RFC1 99.44 1 SEPSECS 99.84 1 UCHL1 99.99 1 CCT5 99.97 1 FAT2 99.94 1 HEXB 99.91 1 PCDH12 100.00 1 REEP2 100.00 1 SIL1 99.99 1 SLC1A3 99.90 1 SLC25A46 99.93 1 SQSTM1 100.00 1 THG1L 99.95 1 ABHD16A 100.00 1 ARG1 99.98 1 ELOVL4 99.92 1 ELOVL5 99.95 1 FARS2 99.98 1 GRM1 99.87 1 HACE1 99.91 1 PEX7 99.87 1 RARS2 97.34 1 SNX14 99.73 1 SYNE1 99.96 1 TDP2 99.85 1 AP4M1 100.00 1 AP5Z1 99.94 1 COG5 99.92 1 IFRD1 99.96 1 PMPCB 99.98 1 RNF216 99.99 1 SAMD9L 99.98 1 VPS41 99.95 1 CA8 99.97 1 CYP7B1 99.87 1 DDHD2 99.74 1 ERLIN2 99.94 1 GPAA1 99.88 1 RNF170 99.94 1 TTPA 99.97 1 WASHC5 99.90 1 APTX 99.92 1 AUH 99.95 1 EXOSC3 99.98 1 GBA2 99.97 1 INPP5E 99.75 1 PMPCA 99.99 1 SETX 99.96 1 SPTAN1 99.97 1 UBAP1 99.96 1 VLDLR 99.93 1 ABCB7 98.62 1 ABCD1 99.78 1 AIFM1 99.43 1 AP1S2 97.43 1 ATP2B3 99.82 1 CASK 99.40 1 L1CAM 99.90 1 PLP1 99.93 1