Short Description

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. The primary phenotypes are attributable to loss of expression of imprinted genes within this region which can arise by means of a number of mechanisms. The most sensitive single approach to diagnosing both PWS and AS is to study methylation patterns within 15q11-q13.

PreTest Information

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Detail Description

ANGELMAN SYNDROME Test Cost INR 10000: Symptoms and Diagnosis

Angelman Syndrome (AS) is a genetic disorder that affects the nervous system, causing developmental delays and intellectual disabilities. It is usually diagnosed in children between the ages of 1 and 5 years old. The syndrome is caused by a genetic mutation that affects the UBE3A gene, which is responsible for producing a protein that helps regulate brain development.

There are several symptoms associated with Angelman Syndrome, including:

• Developmental delays
• Lack of speech or minimal speech
• Ataxia (uncoordinated movements)
• Seizures
• Hyperactivity and a short attention span
• Repetitive movements, such as hand-flapping or clapping

Diagnosing Angelman Syndrome can be challenging, as the symptoms are often similar to those of other conditions, such as autism or cerebral palsy. However, several tests can help confirm a diagnosis, including:

• Genetic testing: This involves analyzing a blood sample to look for mutations in the UBE3A gene. This test can confirm a diagnosis in up to 80% of cases.
• Chromosomal testing: This involves analyzing a blood sample to look for chromosomal abnormalities that could be causing the symptoms.
• Brain imaging: This involves using magnetic resonance imaging (MRI) to look for structural abnormalities in the brain that could be causing the symptoms.

The cost of an Angelman Syndrome test in India can vary depending on the type of test and the laboratory conducting the test. However, on average, the cost of an Angelman Syndrome test in India is around INR 10,000.

If you suspect that your child may have Angelman Syndrome, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and intervention can help improve outcomes for children with the condition.

In conclusion, Angelman Syndrome is a genetic disorder that affects the nervous system, causing developmental delays and intellectual disabilities. The syndrome is caused by a genetic mutation that affects the UBE3A gene, and there are several symptoms associated with the condition. Diagnosing Angelman Syndrome can be challenging, but several tests can help confirm a diagnosis. If you suspect that your child may have Angelman Syndrome, it is important to speak with a healthcare professional as soon as possible. The cost of an Angelman Syndrome test in India is around INR 10,000.

For more information on Angelman Syndrome and genetic testing, contact DNA Labs India today.