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Children's Cincinnati, Alagille Syndrome
Test CodeNMCP018
CPT Codes
81407, 81403
Preferred Specimen
whole blood
Minimum Volume
3 mL
Methodology
"PCR-based sequencing of the coding regions and their exon/intron boundaries of the JAG1 gene. ~ 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 "
Report Available
3-4 weeks
Reference Range
"Each test report includes a detailed interpretation of the genetic findings, the clinical significance of the result, and specific recommendations for clinical management and additional testing, if warranted. Results will be reported to the referring phy
Clinical Significance
"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.
INDICATIONS:
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
ANALYTICAL
SENSITIVITY:
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.
"
INDICATIONS:
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
ANALYTICAL
SENSITIVITY:
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.
"
