MTPAP - autosomal recessive spastic ataxia type 4

This test is available for the following conditions:

  • Conditions > Neurological > Ataxia, spastic, autosomal recessive

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • 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: 613669
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385

Gene

KIF1C - autosomal recessive spastic ataxia type 2

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

KIF1C - autosomal recessive spastic ataxia type 2



€ 501

KIF1C - autosomal recessive spastic ataxia type 2

This test is available for the following conditions:

  • Conditions > Neurological > Ataxia, spastic, autosomal recessive

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

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 603060
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501
Gene

MTPAP - autosomal recessive spastic ataxia type 4

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

MTPAP - autosomal recessive spastic ataxia type 4



€ 385
Gene

SACS - spastic ataxia of the Charlevoix-Saguenay type

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 682

SACS - spastic ataxia of the Charlevoix-Saguenay type



€ 682

SACS - spastic ataxia of the Charlevoix-Saguenay type

This test is available for the following conditions:

  • Conditions > Neurological > Ataxia, spastic, autosomal recessive

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • 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: 604490
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 682