NOTCH3 Gene, Full Gene Analysis, Varies
Use
The test is instrumental in establishing a molecular diagnosis in patients exhibiting symptoms consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and other NOTCH3-related disorders. By identifying disease-causing variants in the NOTCH3 gene, it helps in the predictive testing of at-risk family members. The insights from this test can assist in diagnosis, prognosis, clinical management, familial screening, recurrence risk assessment, and genetic counseling for NOTCH3-related disorders.
Special Instructions
Consent is required for genetic testing from New York clients to document that a copy is on file. For cord blood specimens, maternal cell contamination studies may impact results; hence, ordering these studies is essential when maternal blood is available. A detailed interpretation of results is highly influenced by a complete and accurate family history.
Limitations
Next-generation sequencing has limitations in detecting all genomic variants. Certain regions may not be effectively evaluated due to homology, high GC content, and repetitive sequences. False-negative or positive results may occur; hence, alternative methods may be recommended for specific clinical disorders. This test is not validated for detecting low levels of mosaicism or differentiating between somatic mutations and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103950-2
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
14-21 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.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |