Charcot-Marie-Tooth disease

KARS - Charcot-Marie-Tooth disease

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Charcot-Marie-Tooth disease

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

Method

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

OMIM: 601421
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PDK3 - Charcot-Marie-Tooth disease

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Charcot-Marie-Tooth disease

This product is also part of the following panels:

• Mendelian inherited disorders panel
• Mitochondrial disorders panel
• Neuropathies panel¹

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

Method

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

OMIM: 300906
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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