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 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: 603967
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509

Gene

CLCN1 - autosomal dominant myotonia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

CLCN1 - autosomal dominant myotonia congenita



€ 501

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




€ 501
Gene

CLCN1 - autosomal recessive myotonia congenita

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

CLCN1 - autosomal recessive myotonia congenita



€ 501

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




€ 501
Gene

SCN4A - atypical myotonia congenita, acetazolamide-responsive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

SCN4A - atypical myotonia congenita, acetazolamide-responsive



€ 509