Short Description

NGS genetic DNA test detecets for variant and mutation detection in NKX2-1 gene for Chorea, hereditary benign

PreTest Information

Clinical History of Patient who is going for NKX2-1 Gene Chorea, hereditary benign NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NKX2-1 Gene Chorea, hereditary benign

Detail Description

NKX2-1 Gene Chorea: Symptoms, Diagnosis, and Cost of Hereditary Benign NGS Genetic DNA Test

Chorea is a movement disorder that is characterized by involuntary, rapid, and irregular movements of the limbs, face, and trunk. It can be caused by a number of factors, including genetic mutations.

One such genetic mutation that can cause chorea is the NKX2-1 gene mutation. This mutation is associated with a condition known as hereditary benign chorea (HBC), which is a rare genetic disorder that typically begins in childhood or adolescence.

Symptoms of NKX2-1 Gene Chorea

The symptoms of NKX2-1 gene chorea can vary from person to person. Some of the common symptoms include:

• Involuntary movements of the limbs, face, and trunk
• Unsteady gait
• Difficulty with balance and coordination
• Speech difficulties
• Muscle weakness

The severity of the symptoms can also vary from mild to severe. In some cases, the symptoms may be mild and only affect certain parts of the body. In other cases, the symptoms may be more severe and affect multiple parts of the body.

Diagnosis of NKX2-1 Gene Chorea

The diagnosis of NKX2-1 gene chorea typically involves a combination of clinical evaluation, genetic testing, and imaging studies.

During the clinical evaluation, the doctor will ask about the patient's medical history and perform a physical examination to assess the patient's motor function and coordination. The doctor may also perform a neurological exam to assess the patient's reflexes, muscle tone, and sensory function.

Genetic testing can be used to confirm the diagnosis of NKX2-1 gene chorea. This typically involves a blood test to look for the specific genetic mutation associated with the disorder.

Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, may also be used to assess the patient's brain structure and function.

Cost of Hereditary Benign NGS Genetic DNA Test

The cost of the hereditary benign NGS genetic DNA test for NKX2-1 gene chorea in India is approximately INR 20,000.

This test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and look for mutations in the NKX2-1 gene. The test can be performed using a blood sample or a saliva sample.

It is important to note that the cost of the test may vary depending on the laboratory that performs the test and the specific tests that are included in the analysis.

Conclusion

NKX2-1 gene chorea is a rare genetic disorder that can cause involuntary movements and other neurological symptoms. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and imaging studies. The cost of the hereditary benign NGS genetic DNA test for NKX2-1 gene chorea in India is approximately INR 20,000.

If you or a loved one is experiencing symptoms of NKX2-1 gene chorea, it is important to speak with a healthcare provider to determine the best course of action.

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 NKX2-1 Gene Chorea, hereditary benign NGS Genetic DNA Test