Short Description

NGS genetic DNA test detecets for variant and mutation detection in MECP2 gene for Rett syndrome preserved speech variant

PreTest Information

Clinical History of Patient who is going for MECP2 Gene Rett syndrome preserved speech variant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MECP2 Gene Rett syndrome preserved speech variant

Detail Description

MECP2 Gene Rett Syndrome Preserved Speech Variant NGS Genetic DNA Test

Rett Syndrome is a rare genetic disorder that affects the development of the brain. It mostly affects girls and is caused by a mutation in the MECP2 gene. There are different types of Rett Syndrome, and one of them is the preserved speech variant.

The preserved speech variant of Rett Syndrome is characterized by the ability to speak and understand language, but the affected individual may have difficulty with other motor skills, such as walking and hand movements. Other symptoms of the preserved speech variant of Rett Syndrome may include:

• Difficulty with balance and coordination
• Hand-wringing or hand-washing movements
• Delayed development of motor skills
• Seizures

Diagnosing the preserved speech variant of Rett Syndrome can be challenging, as the symptoms may not be immediately apparent. However, a genetic DNA test can confirm the presence of the MECP2 gene mutation.

At DNA Labs India, we offer the MECP2 Gene Rett Syndrome Preserved Speech Variant NGS Genetic DNA Test. This test uses Next-Generation Sequencing (NGS) technology to analyze the MECP2 gene and detect any mutations that may be present. The test is non-invasive and requires only a small blood sample.

The cost of the MECP2 Gene Rett Syndrome Preserved Speech Variant NGS Genetic DNA Test at DNA Labs India is INR 20,000. This cost includes the analysis of the MECP2 gene and a detailed report of the test results.

If you suspect that your child may have the preserved speech variant of Rett Syndrome, it is important to seek medical attention and have them tested as soon as possible. Early diagnosis and intervention can help manage the symptoms of the disorder and improve the overall quality of life for the affected individual.

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 MECP2 Gene Rett syndrome preserved speech variant NGS Genetic DNA Test