POLG - Mitochondriaal DNA depletie syndroom

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Epilepsy panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Intellectual disability / developmental delay panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Mitochondrial disorders panel
• Movement disorders panel
• Muscle disorders panel
• Parkinson disease panel
• Polyneuropathies panel¹
• Premature ovarian insufficiency panel
• Vision disorders panel

OMIM: 174763
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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