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:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
- WES skin disorders¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
HSPD1 - autosomal dominant spastic paraplegia type 13
This test is available for the following conditions:
- Conditions > Neurological > Spastic paraplegia, autosomal dominant
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES heart disorders¹ (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
- WES movement disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
118190
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:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES mitochondrial disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES amyotrophic lateral sclerosis, ALS (100.0% *)
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES vision disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
ATL1 - autosomal dominant spastic paraplegia type 3A (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:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neurological pain disorders¹ (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Deletion/duplication analysis (MLPA)
OMIM:
606439
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:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
