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Alagille Syndrome
JAG1 (jagged 1)
We offer comprehensive JAG1 testing, including full gene sequencing and deletion/duplication analysis, which is expected to identify a disease-causing mutation/deletion in 94% of patients with Alagille syndrome. Testing is offered in two tiers; tier 1 includes sequence analysis of exons 1-6, 9, 12, 16, 17, 20, 23 and 24 (identifies a mutation in 77% of patients), and targeted array CGH analysis (ExonArrayDx) with exon-level resolution (identifies a deletion/duplication of one or more exons of JAG1 in 6-7% of patients). Tier 2 analysis encompasses sequencing of the remaining exons of the JAG1 gene (7, 8, 10, 11, 13-15, 18, 19, 21, 22, 25 and 26). Mutation-specific testing of family members and prenatal diagnosis is available once the mutation in a family has been defined.
FISH testing for Alagille syndrome is also available as a separate test. Please use our
Molecular Cytogenetics Sample Submission Form
.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
JAG1, JAGGED, JAGGED1, Pulmonic stenosis, Tetralogy of Fallot, Embyrotoxon, Cholestasis, Liver, Alagille-Watson Syndrome, Pulmonary stenosis, Arteriohepatic dysplasia
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