MYH8 (exon 18) - trismus pseudocamptodactyly
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Trismus pseudocamptodactyly syndrome
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
- Sequence analysis of selected exons and flanking intron-exon boundaries
Only analysis of exon 18 due targetted mutation analysis of the only known pathogenic mutation in this gene.
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane