Microphtalmia, syndromic

SOX2 - microphthalmia, syndromic 3

This test is available for the following conditions:

• Conditions > Intellectual Disability > Microphtalmia, syndromic
• Conditions > Multiple congenital anomalies (MCA) > Microphtalmia, syndromic
• Conditions > Vision impairment / blindness > Microphtalmia, syndromic

This product is also part of the following panels:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Short stature/skeletal dysplasia 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: 184429
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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