Schimke immunoosseous dysplasia

SMARCAL1 - Schimke immunoosseous dysplasia

This test is available for the following conditions:

• Conditions > Immunological, hereditary > Schimke immunoosseous dysplasia
• Conditions > Skeletal > Schimke immunoosseous dysplasia
• Conditions > Vision impairment / blindness > Schimke immunoosseous dysplasia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• Renal disorders panel
• 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: 606622
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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