Spondyloepimetaphysal dysplasia

B3GALT6 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Spondyloepimetaphysal dysplasia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Orofacial clefting panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

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

Method

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

OMIM: 615291
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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