DIS3L2 - Perlman syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Perlman syndrome
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Intellectual disability panel
- Mendelian inherited disorders panel
- Tall stature panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
614184
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane