- Genetic tests
- Hereditary Spastic Paraplegia (94 genes)
Hereditary Spastic Paraplegia (94 genes)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Hereditary Spastic Paraplegia (94 genes)
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Description: |
HSP panel (94 genen): ABCD1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATL1, ATP13A2, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CAPN1, CCT5, CPT1C, CYP27A1, CYP2U1, CYP7B1, DARS, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, FLRT1, GBA2, GCH1, GJC2, HACE1, HSPD1, IBA57, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, L1CAM, MAG, MARS, MARS2, MTPAP, NIPA1, NKX6-2, NT5C2, OPA3, PCYT2, PGAP1, PLP1, PNPLA6, POLR3A, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SERAC1, SLC16A2, SLC1A4, SLC2A1, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, UCHL1, USP8, VAMP1, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27 |
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: | |
Turnaround time (maximum): |
6 - 9 months
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Document(s): | |
Created: |
19 Jul 2019 - 12:39
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Changed: |
15 Oct 2021 - 14:33
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URL: |
- ABCD1
- ADAR
- AFG3L2
- AIMP1
- ALDH18A1
- ALDH3A2
- ALS2
- AMPD2
- AP4B1
- AP4E1
- AP4M1
- AP4S1
- AP5Z1
- ARL6IP1
- ARSI
- ATL1
- ATP13A2
- B4GALNT1
- BICD2
- BRAF
- BSCL2
- C19ORF12
- CAPN1
- CBL
- CCT5
- CPT1C
- CYP27A1
- CYP2U1
- CYP7B1
- DARS1
- DDHD1
- DDHD2
- DSTYK
- ENTPD1
- ERCC2
- ERLIN1
- ERLIN2
- FA2H
- FARS2
- FLRT1
- GBA2
- GCH1
- GJC2
- HACE1
- HRAS
- HSPD1
- IBA57
- KCNA2
- KDM5C
- KIDINS220
- KIF1A
- KIF1C
- KIF5A
- KLC2
- KRAS
- L1CAM
- MAP2K1
- MAP2K2
- MARS1
- MARS2
- MTPAP
- MTRFR
- NIPA1
- NKX6-2
- NRAS
- NT5C2
- OPA3
- PCYT2
- PGAP1
- PLP1
- PNPLA6
- POLR3A
- PTPN11
- RAB3GAP2
- RAF1
- REEP1
- REEP2
- RIT1
- RNASEH2B
- RTN2
- SACS
- SERAC1
- SHOC2
- SLC16A2
- SLC1A4
- SLC2A1
- SLC33A1
- SOS1
- SPART
- SPAST
- SPG11
- SPG21
- SPG7
- TECPR2
- TFG
- TUBB4A
- UBAP1
- UCHL1
- USP8
- VAMP1
- VPS37A
- WASHC5
- WDR48
- ZFR
- ZFYVE26
- ZFYVE27
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Hereditary Spastic Paraplegia (94 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 95.00 0 interpretable range CS1>95% ADAR 95.00 0 interpretable range CS1>95% AFG3L2 95.00 0 interpretable range CS1>95% AIMP1 95.00 0 interpretable range CS1>95% ALDH18A1 95.00 0 interpretable range CS1>95% ALDH3A2 95.00 0 interpretable range CS1>95% ALS2 95.00 0 interpretable range CS1>95% AMPD2 95.00 0 interpretable range CS1>95% AP4B1 95.00 0 interpretable range CS1>95% AP4E1 95.00 0 interpretable range CS1>95% AP4M1 95.00 0 interpretable range CS1>95% AP4S1 95.00 0 interpretable range CS1>95% AP5Z1 95.00 0 interpretable range CS1>95% ARL6IP1 95.00 0 interpretable range CS1>95% ARSI 95.00 0 interpretable range CS1>95% ATL1 95.00 0 interpretable range CS1>95% ATP13A2 95.00 0 interpretable range CS1>95% B4GALNT1 95.00 0 interpretable range CS1>95% BICD2 95.00 0 interpretable range CS1>95% BSCL2 95.00 0 interpretable range CS1>95% MTRFR 95.00 0 interpretable range CS1>95% C19ORF12 95.00 0 interpretable range CS1>95% CAPN1 95.00 0 interpretable range CS1>95% CCT5 95.00 0 interpretable range CS1>95% CPT1C 95.00 0 interpretable range CS1>95% CYP27A1 95.00 0 interpretable range CS1>95% CYP2U1 95.00 0 interpretable range CS1>95% CYP7B1 95.00 0 interpretable range CS1>95% DARS1 95.00 0 interpretable range CS1>95% DDHD1 95.00 0 interpretable range CS1>95% DDHD2 95.00 0 interpretable range CS1>95% DSTYK 95.00 0 interpretable range CS1>95% ENTPD1 95.00 0 interpretable range CS1>95% ERLIN1 95.00 0 interpretable range CS1>95% ERLIN2 95.00 0 interpretable range CS1>95% FA2H 95.00 0 interpretable range CS1>95% FARS2 95.00 0 interpretable range CS1>95% FLRT1 95.00 0 interpretable range CS1>95% GBA2 95.00 0 interpretable range CS1>95% GCH1 95.00 0 interpretable range CS1>95% GJC2 95.00 0 interpretable range CS1>95% HACE1 95.00 0 interpretable range CS1>95% HSPD1 95.00 0 interpretable range CS1>95% IBA57 95.00 0 interpretable range CS1>95% KCNA2 95.00 0 interpretable range CS1>95% KDM5C 95.00 0 interpretable range CS1>95% KIDINS220 95.00 0 interpretable range CS1>95% KIF1A 95.00 0 interpretable range CS1>95% KIF1C 95.00 0 interpretable range CS1>95% KIF5A 95.00 0 interpretable range CS1>95% KLC2 95.00 0 interpretable range CS1>95% L1CAM 95.00 0 interpretable range CS1>95% ERCC2 95.00 0 interpretable range CS1>95% MARS1 95.00 0 interpretable range CS1>95% MARS2 95.00 0 interpretable range CS1>95% MTPAP 95.00 0 interpretable range CS1>95% NIPA1 95.00 0 interpretable range CS1>95% NKX6-2 95.00 0 interpretable range CS1>95% NT5C2 95.00 0 interpretable range CS1>95% OPA3 95.00 0 interpretable range CS1>95% PCYT2 95.00 0 interpretable range CS1>95% PGAP1 95.00 0 interpretable range CS1>95% PLP1 95.00 0 interpretable range CS1>95% PNPLA6 95.00 0 interpretable range CS1>95% POLR3A 95.00 0 interpretable range CS1>95% RAB3GAP2 95.00 0 interpretable range CS1>95% REEP1 95.00 0 interpretable range CS1>95% REEP2 95.00 0 interpretable range CS1>95% RNASEH2B 95.00 0 interpretable range CS1>95% RTN2 95.00 0 interpretable range CS1>95% SACS 95.00 0 interpretable range CS1>95% SERAC1 95.00 0 interpretable range CS1>95% SLC16A2 95.00 0 interpretable range CS1>95% SLC1A4 95.00 0 interpretable range CS1>95% SLC2A1 95.00 0 interpretable range CS1>95% SLC33A1 95.00 0 interpretable range CS1>95% SPART 95.00 0 interpretable range CS1>95% SPAST 95.00 0 interpretable range CS1>95% SPG11 95.00 0 interpretable range CS1>95% SPG21 95.00 0 interpretable range CS1>95% SPG7 95.00 0 interpretable range CS1>95% TECPR2 95.00 0 interpretable range CS1>95% TFG 95.00 0 interpretable range CS1>95% TUBB4A 95.00 0 interpretable range CS1>95% UBAP1 95.00 0 interpretable range CS1>95% UCHL1 95.00 0 interpretable range CS1>95% USP8 95.00 0 interpretable range CS1>95% VAMP1 95.00 0 interpretable range CS1>95% VPS37A 95.00 0 interpretable range CS1>95% WASHC5 95.00 0 interpretable range CS1>95% WDR48 95.00 0 interpretable range CS1>95% ZFR 95.00 0 interpretable range CS1>95% ZFYVE26 95.00 0 interpretable range CS1>95% ZFYVE27 95.00 0 interpretable range CS1>95% BRAF 95.00 0 interpretable range CS1>95% CBL 95.00 0 interpretable range CS1>95% HRAS 95.00 0 interpretable range CS1>95% KRAS 95.00 0 interpretable range CS1>95% MAP2K1 95.00 0 interpretable range CS1>95% MAP2K2 95.00 0 interpretable range CS1>95% NRAS 95.00 0 interpretable range CS1>95% PTPN11 95.00 0 interpretable range CS1>95% RAF1 95.00 0 interpretable range CS1>95% SHOC2 95.00 0 interpretable range CS1>95% SOS1 95.00 0 interpretable range CS1>95% RIT1 95.00 0 interpretable range CS1>95%