About the Disorder | Indications | Specimen l Testing Methodology l Clinical Sensitivity I Analytical Sensitivity l Turnaround Time l Cost l CPT Codes l Shipping l Results l Contact Us
Alagille syndrome is a complex disorder characterized by cholestasis and bile duct paucity, cardiac defects, skeletal abnormalities, ophthalmologic abnormalities and characteristic facial features. Less common features of Alagille syndrome include kidney abnormalities, neurovascular accidents and pancreatic insufficiency. Developmental delay and mild mental retardation are seen in a minority of individuals with Alagille syndrome. Mutations in JAG1 result in broad phenotypic variability, even within families.
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- Diagnostic testing in patients with suspected Alagille syndrome
- Targeted mutation analysis of at-risk relatives of patient with JAG1 mutation
- Prenatal diagnosis of an at-risk fetus (after confirmation of specific mutation in family and by prior arrangement only)
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At least 2 mL whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date and date of collection. Phlebotomist must initial tube to verify patient’s identity.
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Testing is performed by PCR-based sequencing of the entire coding regions and intron/exon boundaries of the JAG1 gene.
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PCR-based sequencing of the coding regions and their exon/intron boundaries of the JAG1 gene detects ~ 88% patients with Alagille syndrome. 20p12 microdeletion syndrome, which includes deletion of the entire JAG1 gene, is identified in approximately 7% of patients with Alagille syndrome and can be detected by fluorescence in-situ hybridization (FISH) analysis. Mutations in NOTCH2 are associated with Alagille syndrome in approximately 1% of affected individuals.
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The sensitivity of PCR-based DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Mutations in regulatory regions or other untranslated regions are not detected by this test. Multiple exon deletions, large insertions, genetic recombinational events and rare, primer site mutations may not be identified using this methodology. If the patient has received a liver transplant or recent blood transfusion, donor DNA may be present in the blood along with patient DNA (chimerism). In this case, additional testing may be required to rule out chimerism.
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3-4 weeks
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Please call our toll free billing hotline at 1-866-450-4198 for current pricing, billing inquiries or for assistance with insurance preauthorization.
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- JAG1 sequence analysis: 83890, 83898(x3), 83894(x3), 83891(x2), 83904(x49), 83909(x49), 83912
- Family-specific mutation analysis: 83890, 83898, 83894, 83891, 83904, 83912
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Please enclose test requisition with sample. All information must be completed before sample can be processed. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to:
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Each test report includes a detailed interpretation of the genetic findings, the clinical significance of the result, and recommendations for clinical management and additional testing, if warranted. Results will be reported to the referring physician or health care provider as specified on the test requisition form.
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For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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