Short-rib thoracic dysplasia

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

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