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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 386

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- Radboudumc & MaasrichtUMC+

Neutral lipid storage disease with myopathy

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Gene

PNPLA2 - neutral lipid storage disease with myopathy

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

Performing laboratory
Radboudumc

€ 386

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PNPLA2 - neutral lipid storage disease with myopathy

GEN

complete analysis

targeted analysis of a familial mutation

€ 386

Add Update Remove

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