Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP1A2 gene for Alternating hemiplegia of childhood type 1

PreTest Information

Clinical History of Patient who is going for ATP1A2 Gene Alternating hemiplegia of childhood type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A2 Gene Alternating hemiplegia of childhood type 1

Detail Description

ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder that affects children. It is characterized by recurrent episodes of paralysis that affect one side of the body or both sides alternately. The disorder can also cause various other symptoms, including developmental delays, cognitive impairment, and seizures.

Research has shown that the ATP1A2 gene is associated with AHC type 1. Mutations in this gene can cause the disorder to develop. Genetic testing can help identify these mutations and provide a diagnosis for AHC type 1.

Symptoms of AHC Type 1

The symptoms of AHC type 1 can vary from person to person. They may include:

• Episodes of paralysis affecting one side of the body or both sides alternately
• Developmental delays
• Cognitive impairment
• Seizures
• Difficulty with balance and coordination
• Muscle stiffness or weakness
• Migraines

Diagnosis of AHC Type 1

AHC type 1 is diagnosed based on a combination of clinical symptoms, family history, and genetic testing. Doctors may conduct a physical exam and neurological evaluation to assess symptoms and determine if genetic testing is necessary.

Genetic testing for AHC type 1 involves analyzing the ATP1A2 gene for mutations. Next-generation sequencing (NGS) is a highly sensitive and accurate method for genetic testing that can identify a wide range of genetic mutations. A positive result for an ATP1A2 gene mutation confirms a diagnosis of AHC type 1.

Cost of NGS Genetic DNA Test for AHC Type 1

NGS Genetic DNA testing for AHC Type 1 can cost around INR 20,000. The cost may vary depending on the laboratory conducting the test and any additional testing or consultations required. It is advisable to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the costs and benefits of testing.

Conclusion

AHC type 1 is a rare neurological disorder that can cause significant developmental delays, cognitive impairment, and seizures. Genetic testing can help identify mutations in the ATP1A2 gene that are associated with AHC type 1. NGS Genetic DNA testing is a highly sensitive and accurate method for genetic testing that can confirm a diagnosis of AHC type 1. It is important to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the costs and benefits of testing.

At DNA Labs India, we offer NGS Genetic DNA testing for AHC Type 1 at an affordable cost. Contact us today to learn more about our testing services and how we can help you diagnose AHC type 1.