DNMT1 - hereditary sensory neuropathy type 1E

This test is available for the following conditions:

  • Conditions > Neurological > Sensory neuropathy

This product is also part of the following panels:

  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic 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: 605077
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 608

Gene

DNMT1 - hereditary sensory neuropathy type 1E

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 608

DNMT1 - hereditary sensory neuropathy type 1E



€ 608
Gene

KIF1A - hereditary sensory neuropathy type 2C

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

KIF1A - hereditary sensory neuropathy type 2C



€ 715

KIF1A - hereditary sensory neuropathy type 2C

This test is available for the following conditions:

  • Conditions > Neurological > Sensory neuropathy

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: 601255
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 715
Gene

WNK1 - hereditary sensory and autonomic neuropathy type II

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 567

WNK1 - hereditary sensory and autonomic neuropathy type II



€ 567

WNK1 - hereditary sensory and autonomic neuropathy type II

This test is available for the following conditions:

  • Conditions > Neurological > Sensory neuropathy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Neurological pain disorders panel¹
  • Neuropathies panel¹
  • Renal 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: 605232
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 567