Charcot-Marie-Tooth disease

DYNC1H1 - Charcot-Marie-Tooth disease type 20

This test is available for the following conditions:

• Conditions > Neurological > Charcot-Marie-Tooth disease

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
• Muscle disorders panel
• Neurological pain disorders panel¹
• 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: 600112
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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INF2 - dominant intermediate Charcot-Marie-Tooth disease

This test is available for the following conditions:

• Conditions > Neurological > Charcot-Marie-Tooth disease

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• Neuropathies panel¹
• Renal disorders panel

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

Method

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

OMIM: 610982
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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