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William’s Syndrome Karyotyping and FISH Test

Original price was: 2,200 د.إ.Current price is: 1,650 د.إ.

-25%

William’s Syndrome is a rare genetic disorder characterized by distinctive facial features, heart problems, developmental delays, and a unique personality profile that often includes a friendly and outgoing demeanor. The condition results from a deletion of genetic material on chromosome 7, which includes the elastin gene, critical for the development of blood vessels and other tissues.

Karyotyping and FISH (Fluorescence In Situ Hybridization) are two key diagnostic tests used to detect Williams Syndrome. Karyotyping involves arranging and photographing the chromosomes in a cell to detect any genetic abnormalities, including the deletion seen in Williams Syndrome. However, because the deletion is often too small to be seen on a standard karyotype, the FISH test is more commonly used for a definitive diagnosis. FISH uses fluorescent probes that bind to specific parts of chromosomes. In the case of Williams Syndrome, the FISH test targets the elastin gene on chromosome 7. If the probe does not bind, indicating the absence of the elastin gene, it confirms the diagnosis of Williams Syndrome.

At DNA Labs UAE, these tests are conducted with precision and care, providing reliable results for those seeking a diagnosis. The cost of the test is 1650 AED, a valuable investment for families seeking answers to their loved one’s unique set of symptoms. Early diagnosis through these tests can lead to better management of the condition, including addressing cardiovascular issues, developmental delays, and providing the necessary support and interventions.

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William’s Syndrome Karyotyping and FISH Test

Test Name: William’s Syndrome Karyotyping and FISH Test

Components: Sodium heparin Vacutainer (2ml)

Price: 1650.0 AED

Sample Condition: Peripheral blood

Report Delivery: 7-10 days

Method: Cell Culture + FISH

Test Type: Genetics

Doctor: Gynecologist

Test Department: Pre Test Information

Pre Test Information: William’s Syndrome (Karyotyping+FISH) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Test Details

William’s syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 7. This deletion is typically detected using a technique called karyotyping, which involves examining the chromosomes of an individual to look for abnormalities.

In karyotyping, cells are collected from the individual, usually through a blood sample. These cells are then cultured in a laboratory and treated with a chemical that stops cell division at a specific stage. This allows the chromosomes to be visualized and analyzed under a microscope. The chromosomes are stained to highlight the banding patterns, which can help identify any structural abnormalities. In the case of William’s syndrome, a deletion in the region of chromosome 7 can be observed.

To confirm the diagnosis of William’s syndrome and determine the exact location of the deletion, another technique called fluorescent in situ hybridization (FISH) is often used. FISH involves using fluorescent probes that bind to specific DNA sequences. In the case of William’s syndrome, probes that bind to the region of chromosome 7 that is deleted are used. The probes are labeled with fluorescent molecules, and when they bind to the target DNA sequence, they emit a fluorescent signal. This allows the specific location of the deletion to be visualized under a microscope.

Karyotyping and FISH are important tools in diagnosing William’s syndrome and determining the exact genetic cause of the disorder. These techniques can also be used to identify other chromosomal abnormalities and genetic disorders.

Test Name William’s Syndrome KaryotypingandFISH Test
Components Sodium heparin Vacutainer (2ml)
Price 1650.0 AED
Sample Condition Peripheral blood
Report Delivery 7-10 days
Method Cell Culture + FISH
Test type Genetics
Doctor Gynecologist
Test Department:
Pre Test Information William’s Syndrome (Karyotyping+FISH) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.
Test Details

Williams syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 7. This deletion is typically detected using a technique called karyotyping, which involves examining the chromosomes of an individual to look for abnormalities.

In karyotyping, cells are collected from the individual, usually through a blood sample. These cells are then cultured in a laboratory and treated with a chemical that stops cell division at a specific stage. This allows the chromosomes to be visualized and analyzed under a microscope.

The chromosomes are stained to highlight the banding patterns, which can help identify any structural abnormalities. In the case of Williams syndrome, a deletion in the region of chromosome 7 can be observed.

To confirm the diagnosis of Williams syndrome and determine the exact location of the deletion, another technique called fluorescent in situ hybridization (FISH) is often used. FISH involves using fluorescent probes that bind to specific DNA sequences. In the case of Williams syndrome, probes that bind to the region of chromosome 7 that is deleted are used.

The probes are labeled with fluorescent molecules, and when they bind to the target DNA sequence, they emit a fluorescent signal. This allows the specific location of the deletion to be visualized under a microscope.

Karyotyping and FISH are important tools in diagnosing Williams syndrome and determining the exact genetic cause of the disorder. These techniques can also be used to identify other chromosomal abnormalities and genetic disorders.

SKU: TEST-5069 Category:

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