Short Description

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 exon 3, 4, 5 and 6 of the NOTCH3 gene.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

NOTCH3 MUTATION DETECTION CADASIL Test cost INR:13000 symptoms diagnosis

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic disorder that affects the blood vessels in the brain. It is caused by a mutation in the NOTCH3 gene. This mutation leads to the accumulation of protein deposits in the walls of the blood vessels, which can cause them to become narrow and brittle, leading to a stroke or other neurological symptoms.

The symptoms of CADASIL can vary widely, but may include:

• Recurrent headaches
• Dementia
• Stroke
• Migraine with aura
• Depression

If you suspect that you or a loved one may have CADASIL, it is important to get a proper diagnosis. DNA Labs India offers a NOTCH3 Mutation Detection CADASIL test that can confirm the presence of the genetic mutation. The test costs INR 13,000 and requires a blood sample.

To diagnose CADASIL, your doctor may also perform a neurological exam, imaging tests such as an MRI or CT scan, and a review of your medical history and symptoms. If the genetic mutation is confirmed, genetic counseling and testing for family members may also be recommended.

Early diagnosis and treatment of CADASIL can help manage symptoms and reduce the risk of complications such as stroke. If you suspect that you or a loved one may have CADASIL, talk to your doctor about getting tested.

Conclusion

CADASIL is a rare genetic disorder that can have serious neurological consequences. The NOTCH3 Mutation Detection CADASIL test offered by DNA Labs India can confirm the presence of the genetic mutation and help with early diagnosis and treatment. If you suspect that you or a loved one may have CADASIL, it is important to talk to your doctor about getting tested.