Pycnodysostosis

CTSK - pycnodysostosis

This test is available for the following conditions:

• Conditions > Skeletal > Pycnodysostosis

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Craniofacial anomalies panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

Method

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

OMIM: 601105
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---