Trismus pseudocamptodactyly syndrome

MYH8 (exon 18) - trismus pseudocamptodactyly

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Trismus pseudocamptodactyly syndrome

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

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

Remarks
Only analysis of exon 18 due targetted mutation analysis of the only known pathogenic mutation in this gene.

OMIM: 160741
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---