Simpson-Golabi-Behmel syndrome

OFD1 - Simpson-Golabi_Behmel syndrome type 2

This test is available for the following conditions:

• Conditions > Intellectual Disability > Simpson-Golabi-Behmel syndrome
• Conditions > Multiple congenital anomalies (MCA) > Simpson-Golabi-Behmel syndrome
• Conditions > Hearing impairment > Simpson-Golabi-Behmel syndrome
• Conditions > Skeletal > Simpson-Golabi-Behmel syndrome

This product is also part of the following panels:

• Ciliopathies panel
• Craniofacial anomalies panel with genome wide CNV analysis
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Orofacial clefting panel with genome wide CNV analysis
• Renal disorders panel
• 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: 300209
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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