ATP7A - X-linked distal spinal muscular atrophy type 3

This test is available for the following conditions:

  • Conditions > Neuromuscular > Spinal muscular atrophy, distal

This product is also part of the following panels:

  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Muscle disorders panel
  • Neuropathies panel¹
  • Skin disorders panel¹

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

Method

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

OMIM: 300489
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501

Gene

ATP7A - X-linked distal spinal muscular atrophy type 3

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

ATP7A - X-linked distal spinal muscular atrophy type 3



€ 501