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:

• WES congenital heartdisease ¹ (100.0% *)
• WES heart disorders¹ (100.0% *)
• WES intellectual disability (100.0% *)
• WES liver disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES neuropathies¹ (100.0% *)
• WES renal disorders (100.0% *)
• WES renal disorders (100.0% *)
• WES vision disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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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