Spastic paraplegia, autosomal dominant

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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Movement disorders panel
• Polyneuropathies 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

Remarks
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

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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 / developmental delay 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
• Polyneuropathies 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

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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 / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Polyneuropathies 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

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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
• Polyneuropathies 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

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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
• Polyneuropathies 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

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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:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Polyneuropathies panel¹

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

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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 / developmental delay 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

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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:

• SPAST - autosomal dominant spastic paraplegia type 4 (SPG4) (MLPA)

This product is also part of the following panels:

• Intellectual disability / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Polyneuropathies 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

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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

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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

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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:

• ATL1 - autosomal dominant spastic paraplegia type 3A

This product is also part of the following panels:

• Intellectual disability / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Neurological pain disorders panel¹
• Polyneuropathies panel¹

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

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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:

• SPAST - autosomal dominant spastic paraplegia type 4 (SPG4)

This product is also part of the following panels:

• Intellectual disability / developmental delay panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Polyneuropathies 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

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