NOTCH3 Gene CADASIL Genetic Test Price 4400 AED
Understanding NOTCH3 Gene CADASIL Genetic Test
What is CADASIL?
CADASIL, an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a rare genetic disorder affecting the blood vessels in the brain. It is caused by mutations in the NOTCH3 gene. This condition gradually deteriorates cognitive function, leading to symptoms like headaches, stroke-like episodes, and mood swings.
The Role of the NOTCH3 Gene
The NOTCH3 gene provides instructions for creating a protein involved in cell-to-cell communication. In individuals with CADASIL, mutations in this gene lead to abnormal protein buildup in the walls of small arteries in the brain. Over time, these deposits thicken the artery walls, reducing blood flow and eventually causing damage.
The NOTCH3 Gene CADASIL Genetic Test
The NOTCH3 Gene CADASIL Genetic Test is a diagnostic tool used to identify mutations in the NOTCH3 gene. This test is essential for confirming a CADASIL diagnosis, especially when symptoms are unclear or other conditions are suspected.
Why is Early Diagnosis Important?
Early diagnosis of CADASIL is crucial for several reasons:
- Family Planning: Knowing the genetic status can help individuals make informed decisions about family planning. Genetic counseling can provide guidance on the risk of passing the mutation to offspring.
- Treatment and Management: While there’s no cure for CADASIL, early diagnosis allows for proactive management of symptoms. This may include lifestyle modifications, medication, and regular monitoring.
- Research Participation: Individuals with a confirmed CADASIL diagnosis can contribute to ongoing research efforts aimed at developing new treatments and understanding the disease better.
The Test Process
The NOTCH3 Gene CADASIL Genetic Test typically involves a blood sample. The blood is analyzed in a laboratory to identify any mutations in the NOTCH3 gene. The results are usually available within a few weeks.
Living with CADASIL
A CADASIL diagnosis can be challenging, but it’s important to remember that support is available. Joining support groups, connecting with other patients, and maintaining open communication with healthcare providers can significantly improve quality of life.
Test Components and Price
The price for the NOTCH3 Gene CADASIL Genetic Test is 4400.0 AED. The test requires a sample of either blood, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
The report for the NOTCH3 Gene CADASIL Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology to analyze the NOTCH3 gene.
Test Type and Doctor
The NOTCH3 Gene CADASIL Genetic Test falls under the category of Vascular Diseases. It is recommended to consult with a General Physician for this test.
Test Department and Pre Test Information
The NOTCH3 Gene CADASIL Genetic Test is conducted by our Genetics department. Prior to the test, it is important to provide the clinical history of the patient who is undergoing the test. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by the NOTCH3 Gene CADASIL NGS Genetic DNA Test gene NOTCH3.
Test Details
The NOTCH3 gene is associated with CADASIL. NGS technology allows for the sequencing of the NOTCH3 gene to identify any genetic mutations or variants related to the disorder. The test involves collecting a DNA sample, typically through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to examine the coding regions of the NOTCH3 gene. The results of the test can confirm a diagnosis of CADASIL and provide information about the specific genetic variant(s) present in the individual.
It is important to note that genetic testing for CADASIL should be conducted by a qualified healthcare professional or genetic counselor. They can provide appropriate pre- and post-test counseling, interpret the results, and guide patients and their families in understanding the implications of the test findings.
| Test Name | NOTCH3 Gene CADASIL Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Vascular Diseases |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for NOTCH3 Gene CADASIL NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NOTCH3 Gene CADASIL NGS Genetic DNA Test gene NOTCH3 |
| Test Details | The NOTCH3 gene is associated with a genetic disorder called CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL is characterized by the progressive narrowing and blockage of small blood vessels in the brain, leading to multiple strokes, cognitive decline, and other neurological symptoms.
NGS (Next-Generation Sequencing) is a type of genetic testing that can analyze multiple genes simultaneously. In the context of CADASIL, NGS can be used to sequence the NOTCH3 gene and identify any genetic mutations or variants that may be associated with the disorder. A NOTCH3 gene CADASIL NGS genetic test involves collecting a DNA sample, typically through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to examine the coding regions of the NOTCH3 gene. The results of the test can help confirm a diagnosis of CADASIL and provide information about the specific genetic variant(s) present in the individual. It’s important to note that genetic testing for CADASIL should be conducted by a qualified healthcare professional or genetic counselor who can provide appropriate pre- and post-test counseling, interpret the results, and guide patients and their families in understanding the implications of the test findings. |
