PNPLA2 - neutral lipid storage disease with myopathy

This test is available for the following conditions:

  • Conditions > Neuromuscular > Neutral lipid storage disease with myopathy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Muscle disorders panel
  • 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: 609059
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386

Gene

PNPLA2 - neutral lipid storage disease with myopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

PNPLA2 - neutral lipid storage disease with myopathy



€ 386