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




€ 501

Gene

ATL1 - autosomal dominant spastic paraplegia type 3A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 707

ATL1 - autosomal dominant spastic paraplegia type 3A



€ 707

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




€ 707
Gene

BSCL2 - autosomal dominant spastic paraplegia type 17 (Silver syndrome)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 320

BSCL2 - autosomal dominant spastic paraplegia type 17 (Silver syndrome)



€ 320

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
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




€ 320
Gene

KIF1A - autosomal dominant spastic paraplegia type 30

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 715

KIF1A - autosomal dominant spastic paraplegia type 30



€ 715

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




€ 715
Gene

KIF5A - autosomal dominant spastic paraplegia type 10

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

KIF5A - autosomal dominant spastic paraplegia type 10



€ 501
Gene

NIPA1 - autosomal dominant spastic paraplegia type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

NIPA1 - autosomal dominant spastic paraplegia type 6



€ 360

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




€ 360
Gene

REEP1 - autosomal dominant spastic paraplegia type 31

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 649

REEP1 - autosomal dominant spastic paraplegia type 31



€ 649

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




€ 649
Gene

RTN2 - autosomal dominant spastic paraplegia type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

RTN2 - autosomal dominant spastic paraplegia type 12



€ 385

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




€ 385
Gene

SLC33A1 - autosomal dominant spastic paraplegia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

SLC33A1 - autosomal dominant spastic paraplegia



€ 369

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




€ 369
Gene

SPAST - autosomal dominant spastic paraplegia type 4 (SPG4)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 591

SPAST - autosomal dominant spastic paraplegia type 4 (SPG4)



€ 591

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




€ 591
Gene

TGM6 - autosomal dominant spastic paraplegia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

TGM6 - autosomal dominant spastic paraplegia



€ 410

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




€ 410
Gene

WASHC5 (KIAA0196)- autosomal dominant spastic paraplegia type 8

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 534

WASHC5 (KIAA0196)- autosomal dominant spastic paraplegia type 8



€ 534

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




€ 534
MLPA

ATL1 - autosomal dominant spastic paraplegia type 3A (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

ATL1 - autosomal dominant spastic paraplegia type 3A (MLPA)



€ 400

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:

  • 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

  • Deletion/duplication analysis (MLPA)

OMIM: 606439
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 400
MLPA

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

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

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



€ 400

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




€ 400