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Di-George Syndrome Karyotyping and FISH Test Cost

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

-25%

DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22, which results in poor development of several bodily systems. This genetic condition can lead to a range of health issues, including heart defects, immune system problems, facial anomalies, and developmental delays. Early detection and intervention are crucial for managing the symptoms and improving the quality of life for those affected.

To diagnose DiGeorge Syndrome, two main genetic tests are employed: Karyotyping and Fluorescence In Situ Hybridization (FISH) test. Karyotyping is a laboratory procedure that provides a comprehensive view of an individual’s chromosomes to identify any large-scale genetic abnormalities, including the deletion characteristic of DiGeorge Syndrome. However, because the deletion in chromosome 22 that causes DiGeorge Syndrome can be very small, a more precise test, known as the FISH test, is often used to confirm the diagnosis. The FISH test is a molecular cytogenetic technique that uses fluorescent probes to visualize specific parts of chromosomes, allowing for the detection of the microdeletion on chromosome 22 associated with the syndrome.

In the UAE, DNA Labs offers these crucial genetic tests for diagnosing DiGeorge Syndrome. The cost of undergoing the testing process is 1650 AED. Conducted in a state-of-the-art facility, DNA Labs UAE ensures accurate and reliable results, providing essential information for the management and treatment of individuals with DiGeorge Syndrome.

Description

Di-George Syndrome Karyotyping and FISH Test

Test Name: Di-George 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: DNA Labs UAE

Pre Test Information: Di-George 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:

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small piece of chromosome 22. This deletion is typically identified through karyotyping, which is a method of analyzing the chromosomes to detect any abnormalities.

In karyotyping, cells from a patient are cultured and then stained to visualize the chromosomes. The chromosomes are then arranged in pairs according to their size, shape, and banding pattern. By examining the karyotype, geneticists can identify any structural abnormalities, such as deletions, duplications, or translocations.

However, karyotyping alone may not be sufficient to detect small deletions or rearrangements, especially in the case of DiGeorge syndrome where the deletion is very small. Therefore, a more specific and sensitive technique called fluorescence in situ hybridization (FISH) is often used to confirm the diagnosis.

FISH involves using fluorescently labeled DNA probes that are complementary to the specific region of the chromosome of interest. These probes bind to the target DNA sequence, allowing visualization of the specific chromosomal region under a fluorescence microscope.

In the case of DiGeorge syndrome, FISH probes are designed to bind to the deleted region on chromosome 22. If the probes fail to bind to the target region, it confirms the presence of the deletion.

Karyotyping and FISH are complementary techniques used in combination to diagnose DiGeorge syndrome. Karyotyping provides an overview of the entire chromosome set, allowing detection of large-scale chromosomal abnormalities, while FISH provides a more targeted analysis to confirm the presence of the specific deletion associated with DiGeorge syndrome.

Test Name	Di-George 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	Di-George 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	DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion of a small piece of chromosome 22. This deletion is typically identified through karyotyping, which is a method of analyzing the chromosomes to detect any abnormalities. In karyotyping, cells from a patient are cultured and then stained to visualize the chromosomes. The chromosomes are then arranged in pairs according to their size, shape, and banding pattern. By examining the karyotype, geneticists can identify any structural abnormalities, such as deletions, duplications, or translocations. However, karyotyping alone may not be sufficient to detect small deletions or rearrangements, especially in the case of DiGeorge syndrome where the deletion is very small. Therefore, a more specific and sensitive technique called fluorescence in situ hybridization (FISH) is often used to confirm the diagnosis. FISH involves using fluorescently labeled DNA probes that are complementary to the specific region of the chromosome of interest. These probes bind to the target DNA sequence, allowing visualization of the specific chromosomal region under a fluorescence microscope. In the case of DiGeorge syndrome, FISH probes are designed to bind to the deleted region on chromosome 22. If the probes fail to bind to the target region, it confirms the presence of the deletion. Karyotyping and FISH are complementary techniques used in combination to diagnose DiGeorge syndrome. Karyotyping provides an overview of the entire chromosome set, allowing detection of large-scale chromosomal abnormalities, while FISH provides a more targeted analysis to confirm the presence of the specific deletion associated with DiGeorge syndrome.