Short Description

Karyotyping For Detection of Fragile X Syndrome is performed using Cell culture methodology. Sample that have to be given is Peripheral blood in Sodium Heparin Vacutainer (2ml) for this test. You can expect results in 7-10 days

PreTest Information

Karyotyping For Detection of Fragile X Syndrome can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Karyotyping For Detection of Fragile X Syndrome

Fragile X Syndrome is a genetic disorder that affects the development of the brain and causes intellectual disability, behavioral and learning challenges. It is caused by a mutation in the FMR1 gene on the X chromosome. The mutation leads to the absence of FMR1 protein, which plays a crucial role in the development of the brain. The absence of the protein leads to the symptoms of the disorder.

The disorder affects both males and females, but males are more severely affected. The symptoms of the disorder can range from mild to severe and may include:

• Intellectual disability
• Delayed speech and language development
• Hyperactivity and attention problems
• Anxiety and social phobia
• Autism spectrum disorder
• Repetitive behaviors
• Seizures

Diagnosis of Fragile X Syndrome is done through genetic testing. Karyotyping is a type of genetic test that can detect the mutation in the FMR1 gene. Karyotyping is a test that analyzes the number, shape, and size of chromosomes in a person's cells. The test is done on a blood sample or a sample of cells taken from the inside of the cheek.

The cost of karyotyping for the detection of Fragile X Syndrome in India is around INR 7500. The test is done in specialized labs that have the equipment and expertise to analyze the chromosomes.

The test is usually recommended for individuals who show symptoms of Fragile X Syndrome or have a family history of the disorder. It is also recommended for women who are planning to have children and are at risk of passing on the mutation to their offspring.

Karyotyping can also be used to diagnose other genetic disorders that are caused by chromosomal abnormalities. Some of these disorders include Down Syndrome, Turner Syndrome, and Klinefelter Syndrome.

In conclusion, karyotyping is a valuable tool for the diagnosis of Fragile X Syndrome and other genetic disorders. The cost of the test in India is affordable, and it can be done in specialized labs that have the expertise to analyze the chromosomes. If you or someone you know is showing symptoms of Fragile X Syndrome, it is important to get tested to get an accurate diagnosis and access appropriate treatment and support.