NOTCH 3 Gene Cadasil (Deletion - Duplication) Test, Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : Before undergoing this test, no special preparation such as fasting is required. However, it's important to inform your doctor about any medications or supplements you're taking, as some can influence the test results. Always follow the instructions provided by your healthcare provider or the testing laboratory.

₹ 35000


The NOTCH 3 Gene Cadasil (Deletion - Duplication) test is a specialized genetic test aimed at identifying mutations in the NOTCH3 gene. This gene is linked to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), a genetic disorder that affects the blood vessels and can lead to stroke and dementia.

In CADASIL, the NOTCH3 gene mutation affects the muscle cells surrounding the small blood vessels (vasculature), particularly within the brain. Understanding the presence and specific nature of these mutations can significantly influence patient management and therapeutic strategies.

Test Name NOTCH 3 Gene Cadasil (Deletion - Duplication Test)
Sample Type Blood
Preparations Required Before undergoing this test, no special preparation such as fasting is required. However, it's important to inform your doctor about any medications or supplements you're taking, as some can influence the test results. Always follow the instructions provided by your healthcare provider or the testing laboratory.
Report Time 1 Month
Price in Hyderabad ₹ 35000

Why might I need a NOTCH 3 Gene Cadasil (Deletion - Duplication) test?

If you have a family history of CADASIL or are experiencing symptoms such as recurrent strokes, migraines, mood disturbances, cognitive decline, or early-onset dementia, your healthcare provider may recommend this test.

How is the NOTCH 3 Gene Cadasil (Deletion - Duplication) test performed?

The test is conducted using a sample of your blood. The DNA is extracted and examined for any alterations, specifically deletions or duplications, in the NOTCH3 gene.

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What are the risks associated with this test?

The test involves a standard blood draw, which carries minimal risks such as minor pain or bruising at the injection site, slight dizziness, or infection.

What does a positive test result mean?

A positive test result means a deletion or duplication in the NOTCH3 gene has been identified. This alteration is associated with CADASIL, and the finding can guide the healthcare provider in devising a management and treatment plan.

Can this test be performed on children?

Yes, the test can be performed on individuals of any age. However, CADASIL usually doesn't manifest until adulthood. Testing is generally recommended for those showing symptoms or with a known family history of CADASIL.

How do the results of this test guide treatment decisions?

The identification of a NOTCH3 gene mutation can provide a definitive diagnosis of CADASIL, leading to more targeted care and management. This may include strategies to manage symptoms and prevent stroke.

Can NOTCH 3 gene mutations be inherited?

Yes, CADASIL is an autosomal dominant disorder, which means the mutation can be passed down from an affected parent to their child.

How accurate is the NOTCH 3 Gene Cadasil (Deletion - Duplication) test?

The test is highly accurate when carried out in a qualified laboratory, but no test is 100% accurate. There may be instances where a mutation is present but not detected, or a detected mutation is not associated with disease.

How long does it take to receive the test results?

The typical turnaround time for the NOTCH 3 Gene Cadasil (Deletion - Duplication) test is 14-20 days, but it may vary depending on the lab.

Can I eat or drink before the test?

Yes, there are no specific dietary restrictions for this test. However, you should follow any instructions given to you by your healthcare provider.

What happens if my test results are positive?

If your test results are positive, it's important to discuss the implications with your healthcare provider. They can guide you through the next steps, including potential treatment options and the likelihood of passing the mutation to your children.

Can the NOTCH 3 Gene Cadasil (Deletion - Duplication) test diagnose other conditions?

While NOTCH3 mutations are most commonly associated with CADASIL, they might also be linked to other vascular disorders. However, the primary focus of this test is to diagnose CADASIL.

What are the limitations of the NOTCH 3 Gene Cadasil (Deletion - Duplication) test?

While the test is highly accurate, it may not detect all possible mutations in the NOTCH3 gene. Some mutations may be missed, or their significance may be unclear. Therefore, the test results should be interpreted in the context of the patient's overall clinical picture.

Is the NOTCH 3 Gene Cadasil (Deletion - Duplication) test available at home?

No, this test requires a blood sample to be collected by a healthcare professional and then sent to a specialized laboratory for analysis.

In conclusion, the NOTCH 3 Gene Cadasil (Deletion - Duplication) test is a crucial tool for diagnosing CADASIL. It can provide significant insight into patient management and treatment strategies, potentially improving patient outcomes. If you have a family history of CADASIL or are showing symptoms, consider discussing this test with your healthcare provider.

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