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Alagille Syndrome
JAG1 (jagged 1)
We offer mutation analysis of the JAG1 gene. Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), the first tier analysis consists of bi-directional sequencing of 12 exons (exons 1-6, 9,12,17,20,23,24). It has been estimated that 65% of mutations in JAG1 will be identified by this approach. If negative, analysis of the remaining coding sequence of the gene can be accomplished, and it is expected that complete analysis (including FISH) of the JAG1 gene will identify the genetic defect in 70-75% of patients with the diagnosis of AGS. Approximately 6-7% of AGS is due to microdeletions involving the JAG1 gene. FISH analysis of chromosome 20p (not available at GeneDx, but available in several cytogenetics laboratories) will detect this subset of cases. Prenatal diagnosis is available once the mutation in a family has been defined.
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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