Myotonia congenita

CLCN1 - autosomal dominant myotonia congenita

This test is available for the following conditions:

• Conditions > Neuromuscular > Myotonia congenita

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Muscle 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: 118425
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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CLCN1 - autosomal recessive myotonia congenita

This test is available for the following conditions:

• Conditions > Neuromuscular > Myotonia congenita

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Muscle disorders panel

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 118425
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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