NL
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
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
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
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
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
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
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
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
