Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP1A3 gene for CAPOS syndrome

PreTest Information

Clinical History of Patient who is going for ATP1A3 Gene CAPOS syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP1A3 Gene CAPOS syndrome

Detail Description

ATP1A3 Gene and CAPOS Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

ATP1A3 gene is responsible for encoding the alpha-3 subunit of the sodium-potassium ATPase enzyme, which plays a vital role in maintaining the electrochemical gradient across the cell membrane. Mutations in this gene have been associated with various neurological disorders, including CAPOS syndrome.

What is CAPOS Syndrome?

CAPOS syndrome is a rare neurological disorder that affects the central nervous system. It is named after its characteristic symptoms:

• Cerebellar ataxia
• Areflexia
• Pes cavus
• Optic atrophy
• Sensorineural hearing loss

Other symptoms of CAPOS syndrome may include seizures, developmental delay, and cognitive impairment. The onset of symptoms usually occurs in early childhood or infancy.

Diagnosis of CAPOS Syndrome

CAPOS syndrome is a genetic disorder, which means that it is caused by mutations in the ATP1A3 gene. A diagnosis of CAPOS syndrome can be made through genetic testing, which involves analyzing a person's DNA to identify any mutations in the ATP1A3 gene.

Next-generation sequencing (NGS) is a type of genetic testing that can sequence multiple genes at once, making it a more efficient and cost-effective way to diagnose genetic disorders like CAPOS syndrome.

NGS Genetic DNA Test Cost for CAPOS Syndrome

The cost of an NGS genetic DNA test for CAPOS syndrome in India is typically around INR 20,000. This cost may vary depending on the specific testing laboratory and any additional services that may be required.

It is important to note that genetic testing for CAPOS syndrome may not be covered by insurance, so patients should check with their provider to determine their coverage and any out-of-pocket costs.

Conclusion

CAPOS syndrome is a rare genetic disorder that can cause a range of neurological symptoms, including cerebellar ataxia, optic atrophy, and sensorineural hearing loss. Genetic testing, including NGS, can be used to diagnose CAPOS syndrome and identify any mutations in the ATP1A3 gene. The cost of an NGS genetic DNA test for CAPOS syndrome in India is typically around INR 20,000, and patients should check with their insurance provider to determine their coverage and any out-of-pocket costs.

If you suspect that you or a loved one may have CAPOS syndrome, it is important to speak with a healthcare professional and consider genetic testing as part of the diagnostic process.

For more information about genetic testing and DNA labs in India, contact DNA Labs India today.

The ATP1A3 gene is associated with a rare neurological disorder called CAPOS syndrome. CAPOS syndrome is a rare genetic disorder that stands for "Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss." It is characterized by a combination of symptoms including developmental delay, cerebellar ataxia (problems with balance and coordination), areflexia (absence of reflexes), pes cavus (high arches of the feet), optic atrophy (damage to the optic nerve), and sensorineural hearing loss.

The ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test is a diagnostic test that uses Next-Generation Sequencing (NGS) technology to analyze the ATP1A3 gene for potential mutations or variants associated with CAPOS syndrome. This genetic test helps identify individuals who have mutations in the ATP1A3 gene that are causing or contributing to their CAPOS syndrome.

During the test, DNA is extracted from a patient's sample, often obtained from blood. The DNA is then sequenced to examine the coding regions and other important regions of the ATP1A3 gene. Any mutations, deletions, or other genetic changes that are detected can provide valuable information about the genetic basis of the individual's condition. This information can assist in confirming a diagnosis, predicting the progression of the disorder, and guiding treatment and management strategies.

Interpreting the results of genetic tests like the ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test requires the expertise of medical professionals, genetic counselors, or specialists who are knowledgeable about CAPOS syndrome and related genetic conditions. They can provide information, counseling, and support to help individuals and families understand the implications of the genetic findings and make informed decisions about their health care.