RAPSN - congenital myasthenic syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 601592
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369

Gene

CHRNA1 - congenital myasthenic syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

CHRNA1 - congenital myasthenic syndrome



€ 393

CHRNA1 - congenital myasthenic syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 100690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393
Gene

CHRND - autosomal dominant ‘slow-channel’ congenital myasthenic syndrome type 3A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

CHRND - autosomal dominant ‘slow-channel’ congenital myasthenic syndrome type 3A



€ 377

CHRND - autosomal dominant ‘slow-channel’ congenital myasthenic syndrome type 3A

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 616321
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

CHRND - autosomal recessive ‘fast-channel’ congenital myasthenic syndrome type 3B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

CHRND - autosomal recessive ‘fast-channel’ congenital myasthenic syndrome type 3B



€ 377

CHRND - autosomal recessive ‘fast-channel’ congenital myasthenic syndrome type 3B

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 616321
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

CHRNE - congenital myasthenic syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

CHRNE - congenital myasthenic syndrome



€ 377

CHRNE - congenital myasthenic syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 100725
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

COLQ - myasthenic syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

COLQ - myasthenic syndrome



€ 435

COLQ - myasthenic syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 603033
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

DOK7 - myasthenic syndrome with limb-girdle dystrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

DOK7 - myasthenic syndrome with limb-girdle dystrophy



€ 369

DOK7 - myasthenic syndrome with limb-girdle dystrophy

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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: 610285
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

RAPSN - congenital myasthenic syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

RAPSN - congenital myasthenic syndrome



€ 369
Gene

SCN4A - myasthenic syndrome, acetazolamide-responsive

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

SCN4A - myasthenic syndrome, acetazolamide-responsive



€ 509

SCN4A - myasthenic syndrome, acetazolamide-responsive

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Myasthenic syndrome
  • Conditions > Neuromuscular > Myasthenic syndrome

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