Alagille Syndrome Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome, helping to establish a diagnosis. It utilizes next-generation sequencing to detect single nucleotide, small deletion-insertion, and copy number variants in two genes, JAG1 and NOTCH2, associated with Alagille syndrome. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
For patients with a previous hematopoietic stem cell transplant from an allogenic donor, test results may be interfered. To ensure test accuracy, any patient with such history should be tested using different procedures. Also, certain prenatal specimen types require consultation with a laboratory genetic counselor before proceeding. Instruct patients to refrain from eating, drinking, smoking, or chewing gum 30 minutes prior to providing a saliva specimen to ensure the accuracy of results.
Limitations
Next-generation sequencing may not detect all types of genomic variants, with certain genome regions being difficult to sequence due to homology or high GC content. There may be regions within JAG1 and NOTCH2 that cannot be effectively evaluated for variants. False-negative or false-positive results are possible, and detection of mosaicism or differentiation between somatic and germline variants is not possible with this test alone. Translocations and inversions typically won't be detected by this method.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous allogenic hematopoietic stem cell transplant may interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |