TUBB3 - congenital Fibrosis of extraocular muscles, type 3A

This test is available for the following conditions:

  • Conditions > Neuromuscular > Fibrosis of extraocular muscles, congenital

This product is also part of the following panels:

  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Polyneuropathies panel¹
  • Vision 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: 602661
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369

Gene

KIF21A - congenital fibrosis of extraocular muscles type 1/3B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 600

KIF21A - congenital fibrosis of extraocular muscles type 1/3B



€ 600

KIF21A - congenital fibrosis of extraocular muscles type 1/3B

This test is available for the following conditions:

  • Conditions > Neuromuscular > Fibrosis of extraocular muscles, congenital

This product is also part of the following panels:

  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Muscle disorders panel
  • Vision 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: 608283
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 600
Gene

PHOX2A - congenital fibrosis of extraocular muscles type 2

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

PHOX2A - congenital fibrosis of extraocular muscles type 2



€ 336

PHOX2A - congenital fibrosis of extraocular muscles type 2

This test is available for the following conditions:

  • Conditions > Neuromuscular > Fibrosis of extraocular muscles, congenital

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
  • Vision 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: 602753
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

TUBB3 - congenital Fibrosis of extraocular muscles, type 3A

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

TUBB3 - congenital Fibrosis of extraocular muscles, type 3A



€ 369