Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
Also known as: NOTCH3 NGS
Use
The test is designed for the genetic confirmation of a clinical diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL is characterized by subcortical ischemic events, such as transient ischemic attacks (TIAs) and strokes, with other features including cognitive defects, dementia, migraines, psychiatric disorders, and epilepsy. The condition exhibits high variability in age of onset and clinical presentation. Pathogenic variants in the NOTCH3 gene are the known cause, and the prevalence is estimated at 2-4 in 100,000 with autosomal dominant inheritance. The clinical sensitivity of this test is 95%, detecting single nucleotide variants with high accuracy.
Special Instructions
Not provided.
Limitations
This test detects variants only in the coding regions and exon-intron boundaries of the NOTCH3 gene. Regulatory region and deep intronic variants are not identified. The test does not detect all deletions, duplications, or insertions and may have reduced sensitivity in pseudogenes or repetitive regions. It may not identify low-level mosaic or somatic variants and is not suitable for patients with recent allogeneic stem cell transplantation. The test does not sequence NOTCH3 exon 1 due to technical limitations.
Methodology
NGS
Biomarkers
NOTCH3
Gene
LOINC Codes
- 66746-9 - Specimen type
- 41077-9 - NOTCH3 gene Mut Anl Bld/T
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B) tube
Collection Instructions
Transport 5 mL of whole blood in the appropriate tube. Ensure proper labeling and handling during collection.
Storage Instructions
Maintain specimens refrigerated during transport.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours; for NY clients, 48 hours |
| Refrigerated | 2 weeks; for NY clients, 1 week |
| Frozen | Unacceptable |
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