Fibrosis of extraocular muscles, congenital

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

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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

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