NL
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
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
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
