| EX1592 NOTCH3 MUTATION DETECTION; CADASIL |
| Specimen: |
4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
1 week |
NA |
|
| Method: |
PCR, Sequencing |
| Comment: |
Samples received on holidays will be reported in the next schedule/next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain, manifested as migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients. Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 (CADASIL1) is caused by heterozygous mutations in the NOTCH3 gene on chromosome 19p13. The disorder is characterized by relapsing strokes with neuropsychiatric symptoms and affects relatively young adults of both sexes. This test is useful for hot spot mutation screening of exons 3, 4, 5, and 6 of the NOTCH3 gene. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder |
| Components: |
*NOTCH3 Gene |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Genomics Clinical Information Requisition Form is mandatory. |
Reviews
There are no reviews yet.