NEK1 - short-rib thoracic dysplasia type 6 with or without polydactyly

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Short-rib thoracic dysplasia
  • Conditions > Neurological > Short-rib thoracic dysplasia

This product is also part of the following panels:

  • Amyotrophic lateral sclerosis, ALS panel
  • Ciliopathies panel
  • Comprehensive preconception carrier test panel¹
  • Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Orofacial clefting panel with genome wide CNV analysis
  • Renal disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Vision disorders panel

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

Method

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

OMIM: 604588
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 600

Gene

NEK1 - short-rib thoracic dysplasia type 6 with or without polydactyly

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 600

NEK1 - short-rib thoracic dysplasia type 6 with or without polydactyly



€ 600