Alagille syndrome

JAG1 - Alagille syndrome ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Alagille syndrome

This product is also part of the following panels:

• Congenital heartdisease panel¹
• Heart disorders panel¹
• Intellectual disability panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Neuropathies panel¹
• 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

• Deletion/duplication analysis (MLPA)

OMIM: 601920
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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