Gene

NPC1 - Niemann-Pick disease type C1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NPC1 - Niemann-Pick disease type C1



€ 725

NPC1 - Niemann-Pick disease type C1

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Niemann-Pick disease

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic 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: 607623
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

NPC2 - Niemann-pick disease type C2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

NPC2 - Niemann-pick disease type C2



€ 725

NPC2 - Niemann-pick disease type C2

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Niemann-Pick disease

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic 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: 601015
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725