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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES comprehensive preconception carrier test ¹
- WES fetal akinesia (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
