Short Description

NGS genetic DNA test detecets for variant and mutation detection in NOP56 gene for Spinocerebellar ataxia type 36, autosomal dominant

PreTest Information

Clinical History of Patient who is going for NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant

Detail Description

NOP56 Gene Spinocerebellar Ataxia Type 36: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spinocerebellar ataxia type 36 (SCA36) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the NOP56 gene, which provides instructions for making a protein that is essential for normal cell function.

SCA36 is an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. The symptoms of SCA36 usually begin in midlife, and they can vary in severity and progression.

Symptoms of SCA36

The symptoms of SCA36 can include:

• Unsteadiness or clumsiness (ataxia) that affects walking, balance, and coordination
• Tremors and twitching (myoclonus) that can affect the arms, legs, and face
• Difficulty with speech and swallowing
• Memory problems and cognitive impairment
• Depression and anxiety

These symptoms can worsen over time, and they can lead to significant disability and a reduced quality of life.

Diagnosis of SCA36

SCA36 is typically diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies.

A neurologist will perform a physical exam and assess the patient's medical history and symptoms. They may also order imaging studies such as magnetic resonance imaging (MRI) to evaluate the brain and spinal cord.

Genetic testing is also an essential part of the diagnostic process. A blood or saliva sample can be tested for mutations in the NOP56 gene using next-generation sequencing (NGS) technology.

NGS Genetic DNA Test Cost for SCA36

The cost of an NGS genetic DNA test for SCA36 in India is approximately INR 20,000. The exact cost may vary depending on the testing facility and the specific tests that are ordered.

NGS technology is a highly accurate and efficient way to sequence large amounts of DNA quickly. It allows for simultaneous testing of multiple genes, which can help to identify the specific genetic mutation responsible for a patient's symptoms.

Early diagnosis of SCA36 is essential for effective management of the condition. Genetic testing can help to confirm the diagnosis and provide valuable information for patients and their families, including the likelihood of passing the mutated gene on to future generations.

Conclusion

SCA36 is a rare genetic disorder that can cause significant disability and a reduced quality of life. Early diagnosis through clinical evaluation and genetic testing is essential for effective management of the condition. NGS genetic DNA testing is a highly accurate and efficient way to identify mutations in the NOP56 gene, which can help to confirm the diagnosis of SCA36. The cost of an NGS genetic DNA test for SCA36 in India is approximately INR 20,000.

If you or a loved one is experiencing symptoms of SCA36, it is essential to seek medical evaluation and genetic testing as soon as possible. With early diagnosis and appropriate management, it is possible to improve quality of life and reduce the impact of this rare genetic disorder.

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 NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic DNA Test