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Lab Test

FISH for Williams Syndrome (Elastin Gene 17q11.23)

The Fluorescence in situ Hybridization (FISH) test is a revolutionary genetic test that can detect and map genetic material within an individual's cells. This test is crucial in pinpointing specific characteristics of DNA, such as the absence of a particular segment, characteristic of conditions like Williams Syndrome.

  • Profile Name: FISH for Williams Syndrome (Elastin Gene 17q11.23)
  • Sample Type: Blood
  • Preparations Required: No specific preparation is necessary for this test.
  • Report Time: 8 days

Williams Syndrome is a genetic disorder caused by a deletion of a segment on chromosome 7 (at the position 7q11.23) which includes the Elastin gene. This gene is important for the elasticity of blood vessels and other structures in the body. The absence of the Elastin gene leads to a range of symptoms including distinctive facial features, developmental delays, and cardiovascular issues.

In the FISH test, fluorescent probes bind to parts of the chromosome that demonstrate a high degree of sequence similarity. This allows visualization of specific regions in the genome, helping detect chromosomal abnormalities. Early detection of conditions like Williams Syndrome can significantly impact disease management and the affected individual's future quality of life.

Home Sample Collection Process

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Book your convenient slot
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
Reporting of the sample at lab
Reporting of the sample at lab
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Download Reports
Frequently Asked Questions

The FISH test is a valuable tool in diagnosing Williams Syndrome as it enables early and accurate detection of the chromosomal deletion. An early diagnosis allows healthcare providers to develop an appropriate management strategy and prepare for potential health complications.

No, there is no need to fast before the FISH test. Patients should maintain their usual eating and drinking habits prior to the test.

No specific preparations are required for this test. However, informing your healthcare provider about any medications or supplements you are currently taking is recommended, as some substances might interfere with the test results.

The FISH test for Williams Syndrome is often recommended if an individual exhibits symptoms consistent with the condition, such as distinctive facial features, developmental delay, or cardiovascular issues. The test may also be performed prenatally if there is a family history of Williams Syndrome or other significant risk factors.

The FISH test can determine if there is a deletion in the region 7q11.23 on chromosome 7, which includes the Elastin gene. This deletion is indicative of Williams Syndrome.

The frequency of this test is typically based on the individual's risk factors and the advice of their healthcare provider. If an individual exhibits symptoms consistent with Williams Syndrome, or if there is a family history of the condition, the test may be recommended.

Typically, individuals have two copies of each chromosome region, including the 7q11.23 region on chromosome 7. A single copy of this region suggests a deletion, indicating Williams Syndrome.

No specific precautions are necessary before or after the FISH test. However, it is important to follow your healthcare provider's instructions to ensure accurate results and promote overall wellbeing.

Generally, the results of the FISH test are not influenced by external factors, as chromosomal abnormalities are genetic. However, certain technical aspects, such as the quality of the sample or errors during the laboratory process, could potentially affect the test results.

If the test results indicate an abnormality, it's crucial to consult a medical geneticist or a genetic counselor. These professionals are well-equipped to provide guidance and advice about the implications of genetic disorders, potential treatments, and management strategies.

The FISH test is highly accurate in detecting the deletion on chromosome 7 that leads to Williams Syndrome. However, like all tests, there is a small chance of false-positive or false-negative results. Therefore, additional tests may be used to confirm the diagnosis.

The results of the FISH test provide critical information that guides the management of Williams Syndrome. Early diagnosis allows for prompt intervention and planning of necessary treatments, which can significantly enhance the quality of life for the individual and their family.

The FISH test is faster and more specific than most other chromosomal analysis tests. It uses fluorescent probes to target and visualize the specific chromosome region of interest, offering results within a few days.

While the FISH test can accurately diagnose Williams Syndrome, it cannot predict the severity of symptoms. The symptoms and their severity can vary widely among individuals with Williams Syndrome, even those with the same chromosomal deletion.

Yes, the FISH test can be used as part of prenatal diagnostic testing if there's a high risk of Williams Syndrome. However, the benefits, risks, and limitations of this test should be discussed with your healthcare provider.

In summary, the FISH test plays a crucial role in diagnosing chromosomal abnormalities like Williams Syndrome. Its accuracy and simplicity, coupled with the absence of specific preparation requirements, make it a valuable tool for those at risk. Always consult with healthcare professionals to ensure a comprehensive interpretation of the results. Early detection can pave the way for effective management strategies, thereby improving the quality of life for those affected by Williams Syndrome.

FISH for Williams Syndrome (Elastin Gene 17q11.23)
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  • 4KM from Madhapur
  • 3KM from Banjara Hills
  • 1.9KM from Yusufguda
  • 3KM from Madhura Nagar
  • 5KM from Shaikpet