Microcephaly, chorioretinopathy, lymphedema, MR

KIF11 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

This test is available for the following conditions:

• Conditions > Intellectual Disability > Microcephaly, chorioretinopathy, lymphedema, MR

This product is also part of the following panels:

• Intellectual disability panel with genome wide CNV analysis
• Lymphatic anomalies panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Skin disorders 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: 148760
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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