Short Description

NGS genetic DNA test detecets for variant and mutation detection in UBE3A gene for Angelman syndrome

PreTest Information

Clinical History of Patient who is going for UBE3A Gene Angelman syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with UBE3A Gene Angelman syndrome

Detail Description

DNA Labs India: UBE3A Gene Angelman Syndrome NGS Genetic DNA Test Cost INR 20,000

Angelman syndrome is a rare genetic disorder that affects about 1 in 12,000 to 20,000 people. It is caused by a defect in the UBE3A gene, which leads to a lack of protein production in the brain. This disorder is characterized by developmental delays, intellectual disability, speech and balance problems, and a happy, sociable disposition.

Symptoms of Angelman Syndrome

The symptoms of Angelman syndrome can vary depending on the age of the affected person. The most common symptoms are:

• Developmental delays
• Intellectual disability
• Speech impairments
• Balance and movement problems
• Seizures
• A happy, sociable disposition

These symptoms usually become apparent by the age of 6 to 12 months. People with Angelman syndrome typically have a smaller head size and a characteristic facial appearance with a wide mouth, protruding tongue, and widely spaced teeth.

Diagnosis of Angelman Syndrome

Diagnosis of Angelman syndrome usually involves a physical examination, medical history, and genetic testing. The genetic testing is done to detect the UBE3A gene defect. There are several types of genetic tests available for Angelman syndrome, including:

• Fluorescence in situ hybridization (FISH)
• Methylation-specific polymerase chain reaction (PCR)
• Chromosomal microarray analysis (CMA)
• Next-generation sequencing (NGS)

The NGS genetic test is the most comprehensive and accurate test for Angelman syndrome. It can detect the UBE3A gene defect with high accuracy and can also identify other genetic abnormalities that may be contributing to the symptoms.

NGS Genetic DNA Test Cost

The cost of the NGS genetic DNA test for Angelman syndrome at DNA Labs India is INR 20,000. This test is performed using state-of-the-art technology and is one of the most accurate genetic tests available for Angelman syndrome.

Conclusion

If you or your child is exhibiting symptoms of Angelman syndrome, it is important to get a proper diagnosis as soon as possible. The NGS genetic DNA test for Angelman syndrome at DNA Labs India is a comprehensive and accurate way to detect the UBE3A gene defect and other genetic abnormalities that may be contributing to the symptoms. With a proper diagnosis, you can get the appropriate treatment and support to manage the symptoms and improve the quality of life.

For more information on the NGS genetic DNA test for Angelman syndrome, contact DNA Labs India today.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for UBE3A Gene Angelman syndrome NGS Genetic DNA Test