Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNKP gene for Ataxia-oculomotor apraxia type 4

PreTest Information

Clinical History of Patient who is going for PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PNKP Gene Ataxia-oculomotor apraxia type 4

Detail Description

PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

DNA Labs India offers the PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test to diagnose a rare genetic disorder that affects the nervous system called Ataxia-oculomotor apraxia type 4 (AOA4). This test can help identify the cause of the disorder and assist in developing a treatment plan to manage symptoms.

Symptoms of AOA4

AOA4 is a progressive disorder that affects the nervous system, causing symptoms to worsen over time. The onset of symptoms usually occurs in early childhood or adolescence. Some common symptoms of AOA4 include:

• Difficulty with coordination and balance
• Tremors or shaking of the limbs
• Difficulty with eye movements
• Speech difficulties
• Progressive difficulty with walking

Diagnosis of AOA4

Diagnosing AOA4 can be challenging, as the symptoms can be similar to other neurological disorders. A thorough evaluation of symptoms and family history can be helpful in determining if genetic testing is necessary. The PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test is a highly accurate genetic test that can determine if there is a mutation in the PNKP gene, which is responsible for AOA4.

Cost of PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test

The cost of the PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test at DNA Labs India is INR 20000. This price includes the cost of the test, as well as genetic counseling to help patients and their families understand the results of the test and what it means for their future.

Conclusion

The PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test is a valuable tool in diagnosing AOA4, a rare genetic disorder that affects the nervous system. The test can help identify the cause of the disorder and assist in developing a treatment plan to manage symptoms. If you or a loved one are experiencing symptoms of AOA4, speak to a medical professional about whether genetic testing is necessary.

For more information about the PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test, contact DNA Labs India today.

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 PNKP Gene Ataxia-oculomotor apraxia type 4 NGS Genetic DNA Test