NOTCH3 Mutations in Kadi
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NOTCH3 Mutations1
FAQ
What other health issues can be detected by NOTCH3 mutation testing?
The NOTCH3 mutation test is mainly done to identify CADASIL, but this test is also used to assess Lateral meningocele syndrome (LMS). LMS affects the nervous system and mainly the bones & muscles. Lateral meningoceles are projections surrounding the meninges through gaps in vertebrae and can affect the nerves extending from the spine to the entire body.
What is NOTCH3?
NOTCH3 is a gene present on the shorter arm (p-arm) of chromosome 19 in human cells. It is represented as on chromosome 19p13; and this gene codes for an important cell membrane protein. This protein is particularly important for the maintenance of blood vessels in the whole body including those that supply blood in the brain. A heterozygous mutation in this gene is known to cause CADASIL; wherein the brain blood vessels get obstructed.
What are the risk factors for CADASIL?
The following risk factors are known for CADASIL:
- Strong familial history of NOTCH3 mutation
- Familial history of frequent strokes and migraines
- Exposure to toxic that may cause spontaneous mutations in the NOTCH3 gene
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Sterling Accuris offers a range of packages including Senior citizen (male and female) package, healthy heart profile, diabetes profile, vitamin profile, covid immunity package and much more. Visit our website to learn more about these packages.
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For us, precision care, safe sample collection, timely delivery of reports, and precise reporting of patient results while adhering to health and safety precautions are the cornerstone of our success.
Do you provide home visit/collection service?
Yes. We do provide home collection services at your doorstep.
Please go ahead and book your visit today from our top menu options in this website / chat or do call us on 812 813 0000.
How long does it take to receive test results?
Though most tests are completed and reported within about 24 hours of receiving the sample for testing, certain tests take several days to weeks.
Your soft copy will be sent on registered email id and Whatsapp. Also, you will receive SMS with link to download your report. Also, your report is available on our website / app.
To know the status of the report, you can call our customer care team on 812 813 0000.
Is there any preparation or precautions for patient before tests or body checkup?
Fasting maybe required in case of a few tests to ensure accurate results.
In general, it is also advisable to abstain from alcohol and heavy diet at least for 24 hours before any health test. You can see the requirement for each test on the product page on our website / app.
NOTCH3 Mutations Test in Kadi
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Sterling Accuris Diagnostics offers NOTCH3 Mutations Test in Kadi to assess CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) & other related disorders.
Overview of NOTCH3 Mutations Test / CADASIL Test
The NOTCH3 Mutations Test is done to detect mutations in the NOTCH3 gene that causes CADASIL and other NOTCH3-related disorders. CADASIL is an inherited neurological disorder mainly characterized by migraine & premature ischemic attacks. The disease course of CADASIL varies widely and migraine with aura is the most common symptom. In many cases, it remains underdiagnosed and may become a reason for neuro- and cardiac- problems. Recognition of a pathogenic variant of NOTCH3 mutation would aid with the diagnosis, prognosis, and clinical management of CADASIL & NOTCH3-related disorders.
Identify CADASIL by booking a NOTCH3 Mutations test near you. Sterling Accuris Diagnostics offers a precise and trustworthy NOTCH3 Mutations Test in Kadi .
Why And When A NOTCH3 Mutations Are Test Done?
A NOTCH3 Mutations test is done to detect disease-causing mutational variants of the NOTCH3 gene that causes CADASIL & related disorders. The mutations which affect the small blood vessels in the brain and the thickening of the walls of these blood vessels cause obstructive blood flow.
A doctor may recommend a NOTCH3 Mutations test if a person exhibits symptoms of CADASIL like:
- Migraine
- Seizures
- Frequent strokes that can lead to dementia
- Cognitive decline
- Vision problem
- Apathy
- Depression
- Tremors
- Weakness
- Numbness
NOTCH3 Mutations Test: Main Highlights
- Instructions: Fasting not required
- Recommended age group: All age groups
- Sample type: Blood
How to interpret NOTCH3 Mutations Test Report
The NOTCH3 Mutations Test is done via. PCR (Polymerase Chain Reaction), Targeted next-generation sequencing and Sanger sequencing technique with blood samples. The mutated gene NOTCH3 is identified and the results given as follows:
- Positive test: Presence of pathogenic mutations in NOTCH3 gene
- Negative test: Absence of pathogenic mutations in NOTCH3 gene
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