Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLNA gene for Heterotopia, periventricular, ED variant

PreTest Information

Clinical History of Patient who is going for FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FLNA Gene Heterotopia, periventricular, ED variant

Detail Description

FLNA Gene Heterotopia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

FLNA gene heterotopia is a rare genetic disorder that affects brain development. It is also known as periventricular heterotopia or bilateral periventricular nodular heterotopia (BPNH). This disorder is caused by mutations in the FLNA gene, which is responsible for producing a protein called filamin A.

People with FLNA gene heterotopia have abnormal clusters of neurons in the white matter of their brain. These clusters, or nodules, can cause seizures, developmental delays, and other neurological problems. Symptoms of FLNA gene heterotopia can vary widely, but they often include:

• Seizures
• Developmental delays
• Cognitive impairment
• Muscle weakness
• Difficulty with speech and language
• Abnormal movements or postures
• Vision problems

Diagnosing FLNA gene heterotopia can be challenging because it is a rare disorder and symptoms can vary widely. A neurological exam, brain imaging, and genetic testing may be used to diagnose the disorder. Genetic testing, such as next-generation sequencing (NGS), can be particularly useful in identifying mutations in the FLNA gene.

NGS is a powerful tool for identifying genetic mutations associated with rare diseases like FLNA gene heterotopia. This technique allows for the sequencing of large amounts of DNA in a single run, making it faster and more efficient than traditional sequencing methods. NGS can also detect mutations in multiple genes simultaneously, which can be helpful in cases where a patient's symptoms are not clearly associated with a single gene.

The cost of NGS genetic DNA testing for FLNA gene heterotopia can vary depending on the laboratory and the specific testing method used. At DNA Labs India, the cost of NGS genetic testing for FLNA gene heterotopia is INR 20,000.

FLNA gene heterotopia is a rare disorder that can cause significant neurological problems. If you or a loved one are experiencing symptoms associated with this disorder, it is important to seek medical attention and genetic testing. NGS genetic testing can be a powerful tool in identifying mutations associated with FLNA gene heterotopia and guiding treatment decisions.

Contact DNA Labs India today to learn more about our NGS genetic testing services and how we can help diagnose rare genetic disorders like FLNA gene heterotopia.

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 FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic DNA Test