IFT80 - short-rib thoracic dysplasia 2 with or without polydactyly

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Asphyxiating thoracic dystrophy (Jeune syndrome)

This product is also part of the following panels:

  • Ciliopathies panel
  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel
  • Orofacial clefting panel
  • Short stature/skeletal dysplasia panel

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

Method

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

OMIM: 611177
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 476
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Gene

IFT80 - short-rib thoracic dysplasia 2 with or without polydactyly

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476
View Add

IFT80 - short-rib thoracic dysplasia 2 with or without polydactyly


€ 476
Add