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:
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
- WES vision 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:
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
- WES vision 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:
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:
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES muscle disorders (100.0% *)
- WES neuropathies¹ (100.0% *)
- WES vision 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:
602661
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
