Branchio-oculo-facio syndrome (BOF)

TFAP2A - branchio-oculo-facial syndrome

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Branchio-oculo-facio syndrome (BOF)
• Conditions > Hearing impairment > Branchio-oculo-facio syndrome (BOF)
• Conditions > Vision impairment / blindness > Branchio-oculo-facio syndrome (BOF)

This product is also part of the following panels:

• Craniofacial anomalies panel
• Hearing impairment panel (including GJB2)
• Intellectual disability panel
• Mendelian inherited disorders panel
• Orofacial clefting panel
• 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: 113620
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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