Short Description

NGS genetic DNA test detecets for variant and mutation detection in YWHAE gene for Miller Dieker lissencephaly syndrome

PreTest Information

Clinical History of Patient who is going for YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic DNA Test gene YWHAE

Detail Description

Understanding YWHAE Gene Miller Dieker Lissencephaly Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

YWHAE gene Miller Dieker Lissencephaly Syndrome (MDLS) is a rare genetic disorder that affects the development of the brain. This condition is caused by a mutation in the YWHAE gene, which provides instructions for making a protein called 14-3-3epsilon. This protein plays a crucial role in the normal development of the brain, and any mutations in the YWHAE gene can lead to abnormal brain development.

Symptoms of YWHAE Gene Miller Dieker Lissencephaly Syndrome

The symptoms of MDLS can vary from person to person, and they can range from mild to severe. Some of the common symptoms of MDLS include:

• Seizures
• Developmental delay
• Intellectual disability
• Muscle weakness
• Difficulty swallowing
• Abnormalities in the shape and structure of the brain

Individuals with MDLS may also have a small head size (microcephaly) and facial abnormalities, such as a small jaw and a high forehead. Some children with MDLS may also experience breathing problems and may require assistance in breathing.

Diagnosis of YWHAE Gene Miller Dieker Lissencephaly Syndrome

MDLS is usually diagnosed through genetic testing. This involves analyzing a sample of the individual's DNA to look for mutations in the YWHAE gene. Genetic testing can be done through a variety of methods, including:

• Next-Generation Sequencing (NGS)
• Sanger sequencing
• Array Comparative Genomic Hybridization (aCGH)

NGS is the most advanced and efficient method of genetic testing, as it can analyze multiple genes at once and provide results quickly. The cost of NGS genetic DNA testing for MDLS in India is typically around INR 20,000.

Treatment of YWHAE Gene Miller Dieker Lissencephaly Syndrome

Unfortunately, there is currently no cure for MDLS. Treatment options are usually focused on managing the symptoms and improving the individual's quality of life. This may involve medications to control seizures, physical therapy to improve muscle strength and coordination, and speech therapy to help with communication and swallowing difficulties.

Conclusion

YWHAE gene Miller Dieker Lissencephaly Syndrome is a rare genetic disorder that can have a significant impact on an individual's life. Early diagnosis and management of symptoms can help improve outcomes, and genetic testing is an important tool in the diagnosis of this condition. If you suspect that you or your child may have MDLS, talk to your healthcare provider about genetic testing options.