Short Description

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.It is also known as Haw River Syndrome and Naito-Oyanagi disease. It is characterized by ataxia, choreoathetosis, dementia, and psychiatric disturbance in adults and ataxia, myoclonus, seizures, and progressive intellectual deterioration in children.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

DRPLA (DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY) GENE ANALYSIS Test

DRPLA (Dentatorubral-pallidoluysian atrophy) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin-1, which is important for the normal functioning of brain cells.

The symptoms of DRPLA usually appear in early adulthood, although they can sometimes begin in childhood or later in life. The symptoms include:

• Uncontrolled movements of the arms and legs
• Tremors
• Difficulty walking or balancing
• Problems with speech and swallowing
• Mental and emotional problems, such as depression and anxiety

If you or someone you know is experiencing any of these symptoms, it is important to see a doctor for a proper diagnosis. DRPLA can be diagnosed through genetic testing, which analyzes a person's DNA to look for the mutation in the ATN1 gene.

DRPLA GENE ANALYSIS Test Cost

The cost of DRPLA gene analysis test in India is INR 7500. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.

The DRPLA gene analysis test is a simple blood test that can be done in a doctor's office or at a laboratory. The test involves taking a small sample of blood and analyzing it for the mutation in the ATN1 gene.

If the mutation is found, it can help doctors make a diagnosis of DRPLA and determine the best course of treatment for the patient.

Conclusion

DRPLA is a rare genetic disorder that can cause a range of symptoms, including uncontrolled movements, tremors, and difficulty walking. If you or someone you know is experiencing these symptoms, it is important to see a doctor for a proper diagnosis. The DRPLA gene analysis test is a simple blood test that can help diagnose the condition, and it is available at DNA Labs India for a cost of INR 7500.

By identifying the mutation in the ATN1 gene, doctors can develop a treatment plan that is tailored to the individual patient's needs. If you have any questions about DRPLA or genetic testing, please contact DNA Labs India for more information.