Congenital cataracts with facial dysmorphism and neuropathy

CTDP1 (c.863+389C>T) - congenital cataracts with facial dysmorphism and neuropathy

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Congenital cataracts with facial dysmorphism and neuropathy
• Conditions > Vision impairment / blindness > Congenital cataracts with facial dysmorphism and neuropathy

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

Method

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

Remarks
Targetted mutation analysis of the only known pathogenic mutation (c.863+389C>T) in this gene.

OMIM: 604168
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---