Card kit

Invitae Alagille Syndrome Panel

Test code: 04215

Test description

This test analyzes two genes, JAG1 and NOTCH2, which are associated with Alagille syndrome (ALGS), a multisystem disorder that is characterized by liver disease (bile duct paucity and cholestasis), congenital heart defects, eye findings, vertebral defects, and characteristic facial features. The clinical presentation of ALGS can be highly variable. Renal and pancreatic abnormalities are also evident in some individuals.

Identification of a genetic change related to ALGS can impact medical management, provide a predicted outcome for the patient, and indicate the recurrence risk. Genetic testing can provide important insight for individuals who are at risk of having ALGS but do not present with obvious symptoms, as they may be at risk of having congenital heart defects or developing bile duct paucity.

Disorders tested

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.
Learn more about specimen requirementsRequest a specimen collection kit

Clinical description and sensitivity

Clinical description:

Alagille syndrome (ALGS) is a multisystemic disorder characterized by liver disease (bile duct paucity and cholestasis), congenital heart defects that primarily involve the pulmonary arteries, ophthalmic findings, butterfly vertebra, and characteristic facial features. Approximately 90% of individuals with ALGS present with bile duct paucity, which is the primary manifestation associated with this syndrome. Renal, neurovasculature, and pancreatic abnormalities are also evident in some individuals.

More than 90% of individuals with ALGS have a congenital heart defect ranging from benign heart murmurs to significant structural defects. The most common heart defect is pulmonic stenosis; other defects that involve the pulmonary outflow tract and vasculature are common as well. Tetralogy of fallot (TOF), ventricular septal defect (VSD), atrial septal defect (ASD), aortic stenosis, and coarctation of the aorta have also been observed in patients with ALGS. The variation in the presentation of ALGS is largely dependent on the severity of the liver disease and congenital heart defect. Both the liver disease and cardiac complications can be life-threatening if they are not identified and managed appropriately.

Clinical description and sensitivity

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Assay information

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You can customize this test by clicking genes to remove them.

Primary panel

2 genes selected
JAG1
NOTCH2

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