NL
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
- 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
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
- 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)
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
SCN4A - atypical myotonia congenita, acetazolamide-responsive
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
- Fetal akinesia panel
- Mendelian inherited disorders panel
- 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:
603967
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
