Arthrogryposis renal dysfuntion and cholestasis

VPS33B - arthrogryposis, renal dysfunction, and cholestasis type 1

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Arthrogryposis renal dysfuntion and cholestasis
• Conditions > Skin > Arthrogryposis renal dysfuntion and cholestasis
• Conditions > Gastric-Intestinal-Liver > Arthrogryposis renal dysfuntion and cholestasis
• Conditions > Hematological, hereditary > Arthrogryposis renal dysfuntion and cholestasis
• Conditions > Immunological, hereditary > Arthrogryposis renal dysfuntion and cholestasis
• Conditions > Renal / Nephrological > Arthrogryposis renal dysfuntion and cholestasis

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Fetal akinesia panel
• Hemostatic/thrombotic disorders panel
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Renal disorders panel
• 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: 10828
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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