Fibrochondrogenesis

COL11A1 - fibrochondrogenesis

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Fibrochondrogenesis

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Craniofacial anomalies panel
• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel
• Orofacial clefting panel
• Short stature/skeletal dysplasia panel
• 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: 120280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---