Smith-McCort dysplasia

RAB33B - Smith-McCort dysplasia type 2

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Smith-McCort dysplasia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders 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: 615222
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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