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 *
  • WES Mendelian inherited disorders (97.5% **)
  • WES muscle disorders (97.5% **)

** % 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




€ 435

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:

  • WES comprehensive preconception carrier test *
  • WES fetal akinesia (93.3% **)
  • WES Mendelian inherited disorders (93.3% **)
  • WES muscle disorders (93.3% **)

** % 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




€ 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:

  • WES comprehensive preconception carrier test *
  • WES fetal akinesia (98.0% **)
  • WES Mendelian inherited disorders (98.0% **)
  • WES muscle disorders (98.0% **)

** % 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




€ 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:

  • WES comprehensive preconception carrier test *
  • WES fetal akinesia (98.0% **)
  • WES Mendelian inherited disorders (98.0% **)
  • WES muscle disorders (98.0% **)

** % 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




€ 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:

  • WES comprehensive preconception carrier test *
  • 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




€ 377
Gene

COLQ - myasthenic syndrome

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

COLQ - myasthenic syndrome



€ 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:

  • WES comprehensive preconception carrier test *
  • WES fetal akinesia (93.3% **)
  • WES Mendelian inherited disorders (93.3% **)
  • WES muscle disorders (93.3% **)

** % 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




€ 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

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 *
  • WES fetal akinesia (97.7% **)
  • WES Mendelian inherited disorders (97.7% **)
  • WES muscle disorders (97.7% **)

** % 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




€ 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:

  • WES comprehensive preconception carrier test *
  • WES fetal akinesia (99.3% **)
  • WES Mendelian inherited disorders (99.3% **)
  • WES muscle disorders (99.3% **)

** % 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




€ 509