Short Description

NGS genetic DNA test detecets for variant and mutation detection in WWOX gene for Early infantile epileptic encephalopathy type 28

PreTest Information

Clinical History of Patient who is going for WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with WWOX Gene Early infantile epileptic encephalopathy type 28

Detail Description

WWOX Gene Early Infantile Epileptic Encephalopathy Type 28 NGS Genetic DNA Test

Early Infantile Epileptic Encephalopathy Type 28 (EIEE28) is a rare genetic disorder that affects children under the age of one. It is caused by mutations in the WWOX gene, which encodes a protein that is involved in the development and function of the brain.

The symptoms of EIEE28 can vary, but typically include seizures that begin in the first few months of life and are difficult to control with medication. Other symptoms may include developmental delay, intellectual disability, and movement disorders.

Diagnosis

Diagnosis of EIEE28 is made through genetic testing. Specifically, Next Generation Sequencing (NGS) of the WWOX gene can identify mutations that cause the disorder. This test is highly accurate and can detect mutations in up to 95% of cases.

It is recommended that genetic testing be performed as early as possible in children suspected of having EIEE28. Early diagnosis can help guide treatment and management strategies, as well as provide families with information about the prognosis of the disorder.

Cost

The cost of the WWOX gene NGS genetic DNA test for EIEE28 is INR 20,000 in DNA Labs India. This cost includes the test itself, as well as any necessary counseling and support services.

While this may seem expensive, it is important to remember that genetic testing can provide valuable information about a child's health and well-being. In many cases, early diagnosis can lead to better outcomes and improved quality of life for both the child and their family.

Conclusion

EIEE28 is a rare genetic disorder that can have serious consequences for affected children and their families. Genetic testing, specifically NGS of the WWOX gene, can provide accurate diagnosis and help guide treatment and management strategies.

While the cost of genetic testing may seem high, it is important to consider the potential benefits of early diagnosis and management. DNA Labs India offers the WWOX gene NGS genetic DNA test for EIEE28 at a cost of INR 20,000, including counseling and support services.

If you suspect your child may have EIEE28 or have any questions about genetic testing, contact DNA Labs India to schedule a consultation with one of our genetic counselors.

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 WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic DNA Test