Lujan-Fryns syndrome

MED12 - Lujan-Fryns syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Lujan-Fryns syndrome
• Conditions > Multiple congenital anomalies (MCA) > Lujan-Fryns syndrome

This product is also part of the following panels:

• Craniofacial anomalies panel with genome wide CNV analysis
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Skin disorders panel¹
• Tall stature panel with genome wide CNV analysis
• Thoracic Aortic Aneurysm and/or Dissection panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 309520
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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