NL
ATL1 - autosomal dominant spastic paraplegia type 3A
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is often ordered in combination with:
This product is also part of the following panels:
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neurological pain disorders panel¹
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
606439
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
BSCL2 - autosomal dominant spastic paraplegia type 17 (Silver syndrome)
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Movement disorders panel
- Neuropathies panel¹
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
Only two specific mutations in exon 3 of the BSCL2 gene have been described in Silver syndrome. Therefore only this exon is analyzed.
OMIM:
606158
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KIF1A - autosomal dominant spastic paraplegia type 30
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Movement disorders panel
- Neurological pain disorders panel¹
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
614255
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KIF5A - autosomal dominant spastic paraplegia type 10
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Amyotrophic lateral sclerosis, ALS panel
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
602821
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NIPA1 - autosomal dominant spastic paraplegia type 6
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608145
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
REEP1 - autosomal dominant spastic paraplegia type 31
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
609139
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RTN2 - autosomal dominant spastic paraplegia type 12
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603183
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC33A1 - autosomal dominant spastic paraplegia
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hearing impairment panel (including GJB2)
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Movement disorders panel
- Vision disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
603690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SPAST - autosomal dominant spastic paraplegia type 4 (SPG4)
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is often ordered in combination with:
This product is also part of the following panels:
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
604277
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TGM6 - autosomal dominant spastic paraplegia
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
WASHC5 (KIAA0196)- autosomal dominant spastic paraplegia type 8
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
610657
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SPAST - autosomal dominant spastic paraplegia type 4 (SPG4) (MLPA)
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is often ordered in combination with:
This product is also part of the following panels:
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
604277
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
