ACTA1 - nemalin myopathy type 3

This test is available for the following conditions:

  • Conditions > Neuromuscular > Nemaline myopathy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Heart disorders panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Muscle disorders panel

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 102610
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369

Gene

ACTA1 - nemalin myopathy type 3

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

ACTA1 - nemalin myopathy type 3



€ 369
Gene

CFL2 - nemalin myopathy type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

CFL2 - nemalin myopathy type 7



€ 345

CFL2 - nemalin myopathy type 7

This test is available for the following conditions:

  • Conditions > Neuromuscular > Nemaline myopathy

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: 601443
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 345
Gene

KBTBD13 - nemaline myopathy type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

KBTBD13 - nemaline myopathy type 6



€ 336

KBTBD13 - nemaline myopathy type 6

This test is available for the following conditions:

  • Conditions > Neuromuscular > Nemaline myopathy

This product is also part of the following panels:

  • Heart disorders panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Neuropathies panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613727
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

TPM2 - nemaline myopathy type 4

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

TPM2 - nemaline myopathy type 4



€ 393

TPM2 - nemaline myopathy type 4

This test is available for the following conditions:

  • Conditions > Neuromuscular > Nemaline myopathy

This product is also part of the following panels:

  • 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: 190990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393
Gene

TPM3 - nemaline myopathy type 1

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

TPM3 - nemaline myopathy type 1



€ 377

TPM3 - nemaline myopathy type 1

This test is available for the following conditions:

  • Conditions > Neuromuscular > Nemaline myopathy

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: 191030
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377