Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGF12 gene for Early infantile epileptic encephalopathy type 47

PreTest Information

Clinical History of Patient who is going for FGF12 Gene Early infantile epileptic encephalopathy type 47 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FGF12 Gene Early infantile epileptic encephalopathy type 47

Detail Description

FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Early Infantile Epileptic Encephalopathy (EIEE) is a group of rare genetic disorders that cause seizures and developmental delays in infants. One type of EIEE is caused by mutations in the FGF12 gene, known as EIEE47. A NGS Genetic DNA Test can diagnose this condition. In this blog, we will discuss the symptoms, diagnosis, and cost of the FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test offered by DNA Labs India.

Symptoms of EIEE47

Infants with EIEE47 usually have their first seizure before the age of three months. These seizures are often focal, meaning they start in one part of the brain, and then spread. They can also be tonic-clonic, which means they involve both sides of the body and cause stiffening and jerking. The seizures are often frequent, and sometimes last for long periods of time. Other symptoms of EIEE47 may include:

• Developmental delay
• Intellectual disability
• Abnormal muscle tone
• Difficulty feeding
• Microcephaly (small head size)

Diagnosis of EIEE47

A NGS Genetic DNA Test can diagnose EIEE47. This test analyzes the DNA of the patient to look for mutations in the FGF12 gene. The test is usually done on a blood or saliva sample. The results of the test can confirm the diagnosis of EIEE47 and help doctors determine the best course of treatment.

Cost of FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test

The cost of the FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. This includes the cost of the test, as well as the consultation with a genetic counselor to discuss the results.

Conclusion

EIEE47 is a rare genetic disorder that can cause seizures and developmental delays in infants. A NGS Genetic DNA Test can diagnose this condition by analyzing the DNA of the patient. The cost of the FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. If you suspect that your child may have EIEE47, it is important to consult with a doctor and genetic counselor to discuss testing options.

For more information about the FGF12 Gene Early Infantile Epileptic Encephalopathy Type 47 NGS Genetic DNA Test offered by DNA Labs India, visit our website or contact us.

Mutations in the FGF12 gene have been associated with a rare genetic disorder known as early infantile epileptic encephalopathy type 47 (EIEE47). EIEE47 is a severe neurological condition characterized by early onset seizures and developmental delays. The FGF12 gene encodes a protein called fibroblast growth factor 12, which is involved in various cellular functions, including neuronal activity.