- Genetic tests
- Hereditary spastic paraplegia (gene panel - 249 genes)
Hereditary spastic paraplegia (gene panel - 249 genes)
Full name: |
Hereditary spastic paraplegia (gene panel - 249 genes)
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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
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2021-03-25 / 2024-09-09
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Turnaround time (maximum): |
6 months
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Created: |
22 Aug 2019 - 12:41
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Changed: |
19 Jan 2024 - 09:24
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URL: |
- ABCD1
- ABHD12
- ADAR
- AFG3L2
- AIMP1
- ALDH18A1
- ALDH3A2
- ALS2
- AMPD2
- ANG
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- ARG1
- ARL6IP1
- ARSI
- ASPA
- ATAD3A
- ATL1
- ATP13A2
- AUH
- B4GALNT1
- BICD2
- BSCL2
- BTD
- C19ORF12
- CAPN1
- CCT5
- CDK16
- CLN8
- COASY
- CPT1C
- CSF1R
- CTNNB1
- CYP27A1
- CYP2U1
- CYP7B1
- DARS1
- DARS2
- DDHD1
- DDHD2
- DSTYK
- ELOVL4
- ENTPD1
- ERCC2
- ERLIN1
- ERLIN2
- EXOSC3
- FA2H
- FARS2
- FBXO7
- FIG4
- FLRT1
- FRMD7
- FUS
- FXN
- GAD1
- GALC
- GAN
- GARS1
- GART
- GBA1
- GBA2
- GBE1
- GCH1
- GFAP
- GJA1
- GJC2
- GLB1
- GLRX5
- GLTP
- GPR143
- GSN
- HACE1
- HEPACAM
- HEXA
- HSD17B4
- HSPD1
- HYCC1
- IBA57
- IFIH1
- IRF2BPL
- KCNJ6
- KCNMA1
- KDM5C
- KIDINS220
- KIF1A
- KIF1C
- KIF5A
- KLC2
- KLC4
- L1CAM
- L2HGDH
- LAMB1
- LYST
- MARS1
- MARS2
- MED12
- MFN2
- MLC1
- MTPAP
- MTRFR
- NANS
- NEFL
- NEXMIF
- NIPA1
- NKX6-2
- NT5C2
- OCLN
- OPA3
- OPTN
- PANK2
- PDYN
- PGAP1
- PLA2G6
- PLP1
- PNPLA6
- POLR3A
- POLR3B
- PPP2R2B
- PRUNE1
- PSEN1
- PUM1
- RAB18
- RAB3GAP1
- RAB3GAP2
- RARS1
- REEP1
- REEP2
- RETREG1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RTN2
- SACS
- SAMD9L
- SAMHD1
- SERAC1
- SETX
- SIL1
- SLC16A2
- SLC25A15
- SLC25A46
- SLC2A1
- SLC33A1
- SLC39A14
- SMPD1
- SOD1
- SOX10
- SPART
- SPAST
- SPG11
- SPG21
- SPG7
- SPR
- SUN1
- SYNE1
- TANGO2
- TARDBP
- TBC1D20
- TECPR2
- TFG
- TGM6
- TH
- TRPV4
- TTBK2
- TUBB4A
- TUBG1
- UBQLN2
- UCHL1
- USP8
- VAMP1
- VAPB
- VCP
- VPS13B
- VPS37A
- WASHC5
- WDR45
- WDR45B
- WDR48
- ZC4H2
- ZFR
- ZFYVE26
- ZFYVE27
-
Hereditary spastic paraplegia (188 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 97.56 1 ABHD12 88.30 1 ADAR 100.00 1 AFG3L2 94.80 1 AIMP1 99.97 1 ALDH18A1 100.00 1 ALDH3A2 99.94 1 ALS2 100.00 1 AMPD2 99.90 1 ANG 100.00 1 AP4B1 100.00 1 AP4E1 99.99 1 AP4M1 100.00 1 AP4S1 100.00 1 AP5Z1 99.25 1 ARG1 100.00 1 ARL6IP1 100.00 1 ARSI 99.82 1 ASPA 100.00 1 ATAD3A 97.50 1 ATL1 99.89 1 ATP13A2 98.30 1 AUH 99.24 1 B4GALNT1 99.99 1 BICD2 100.00 1 BSCL2 100.00 1 BTD 100.00 1 MTRFR 100.00 1 C19ORF12 100.00 1 CAPN1 99.97 1 CCT5 99.92 1 CDK16 99.96 1 CLN8 100.00 1 COASY 100.00 1 CPT1C 100.00 1 CSF1R 99.99 1 CTNNB1 100.00 1 CYP27A1 99.38 1 CYP2U1 93.20 1 CYP7B1 100.00 1 DARS1 100.00 1 DARS2 100.00 1 DDHD1 99.58 1 DDHD2 100.00 1 DSTYK 100.00 1 ELOVL4 100.00 1 ENTPD1 100.00 1 ERCC2 98.91 1 ERLIN1 100.00 1 ERLIN2 100.00 1 EXOSC3 100.00 1 FA2H 95.71 1 HYCC1 100.00 1 RETREG1 100.00 1 FARS2 100.00 1 FBXO7 99.78 1 FIG4 100.00 1 FLRT1 100.00 1 FRMD7 99.98 1 FUS 100.00 1 FXN 100.00 1 GAD1 100.00 1 GALC 98.98 1 GAN 98.52 1 GARS1 97.89 1 GART 99.99 1 GBA1 100.00 1 GBA2 100.00 1 GBE1 100.00 1 GCH1 99.71 1 GFAP 100.00 1 GJA1 100.00 1 GJC2 96.72 1 GLB1 100.00 1 GLRX5 100.00 1 GLTP 100.00 1 GPR143 89.09 1 GSN 97.80 1 HACE1 98.41 1 HEPACAM 99.85 1 HEXA 100.00 1 HSD17B4 100.00 1 HSPD1 100.00 1 IBA57 92.01 1 IFIH1 100.00 1 IRF2BPL 97.56 1 KCNJ6 100.00 1 KCNMA1 99.93 1 KDM5C 99.97 1 WASHC5 100.00 1 NEXMIF 100.00 1 KIDINS220 100.00 1 KIF1A 98.74 1 KIF1C 100.00 1 KIF5A 100.00 1 KLC2 100.00 1 KLC4 99.99 1 L1CAM 99.98 1 L2HGDH 99.75 1 LAMB1 100.00 1 LYST 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MFN2 100.00 1 MLC1 98.57 1 MTPAP 99.98 1 NANS 100.00 1 NEFL 100.00 1 NIPA1 92.99 1 NKX6-2 100.00 1 NT5C2 100.00 1 OCLN 100.00 1 MED12 99.98 1 OPA3 100.00 1 OPTN 100.00 1 PANK2 100.00 1 PDYN 100.00 1 PGAP1 100.00 1 PLA2G6 100.00 1 PLP1 100.00 1 PNPLA6 99.95 1 POLR3A 100.00 1 POLR3B 100.00 1 PPP2R2B 100.00 1 PRUNE1 100.00 1 PSEN1 100.00 1 PUM1 100.00 1 RAB18 99.99 1 RAB3GAP1 100.00 1 RAB3GAP2 100.00 1 RARS1 99.99 1 REEP1 100.00 1 REEP2 97.04 1 RNASEH2A 100.00 1 RNASEH2B 94.58 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RTN2 99.44 1 SACS 99.95 1 SAMD9L 100.00 1 SAMHD1 100.00 1 SERAC1 100.00 1 SETX 100.00 1 SIL1 99.95 1 SLC16A2 99.97 1 SLC25A15 100.00 1 SLC25A46 100.00 1 SLC2A1 100.00 1 SLC33A1 100.00 1 SLC39A14 99.94 1 SMPD1 100.00 1 SOD1 100.00 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 100.00 1 SPART 100.00 1 SPG21 100.00 1 SPG7 95.78 1 SPR 99.98 1 SUN1 100.00 1 SYNE1 100.00 1 TANGO2 99.94 1 TARDBP 99.43 1 TBC1D20 95.06 1 TECPR2 99.92 1 TFG 99.98 1 TGM6 100.00 1 TH 98.79 1 TRPV4 100.00 1 TTBK2 100.00 1 TUBB4A 100.00 1 TUBG1 100.00 1 UBQLN2 99.30 1 UCHL1 99.66 1 USP8 100.00 1 VAMP1 100.00 1 VAPB 99.77 1 VCP 97.10 1 VPS13B 100.00 1 VPS37A 99.28 1 WDR45 100.00 1 WDR45B 99.94 1 WDR48 100.00 1 ZC4H2 100.00 1 ZFR 100.00 1 ZFYVE26 100.00 1 ZFYVE27 100.00 1