Cerebrooculofacioskeletal syndrome

ERCC6 - cerebrooculofacioskeletal syndrome, type 1

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Cerebrooculofacioskeletal syndrome

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Fetal akinesia panel
• Hereditary cancer panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Premature ovarian insufficiency 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: 609413
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---