Short Description

NGS genetic DNA test detecets for variant and mutation detection in SYNE1 gene for Spinocerebellar ataxia type 8, autosomal recessive

PreTest Information

Clinical History of Patient who is going for SYNE1 Gene Spinocerebellar ataxia type 8, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SYNE1 Gene Spinocerebellar ataxia type 8, autosomal recessive

Detail Description

SYNE1 Gene Spinocerebellar ataxia type 8: Symptoms, Diagnosis and NGS Genetic DNA Test cost

Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative disorder that affects the cerebellum, a part of the brain that controls movement coordination and balance. SCA8 is caused by a mutation in the SYNE1 gene, which is involved in the formation and maintenance of the synapses between neurons.

Symptoms of SCA8

The symptoms of SCA8 usually start in adulthood and gradually worsen over time. The most common symptoms of SCA8 include:

• Difficulty with coordination and balance
• Trouble with fine motor skills, such as writing or buttoning a shirt
• Speech difficulties, including slurred speech and difficulty with articulation
• Eye movement problems, including difficulty controlling eye movements and involuntary eye movements
• Memory and cognitive problems, including difficulty with concentration and memory loss

Diagnosis of SCA8

SCA8 can be diagnosed through genetic testing, which involves analyzing a sample of the patient's DNA for mutations in the SYNE1 gene. This can be done through Next-Generation Sequencing (NGS) technology, which can sequence the entire SYNE1 gene quickly and accurately.

If a patient is suspected of having SCA8 based on their symptoms and family history, they may be referred to a genetic counselor or a genetic testing laboratory like DNA Labs India. The genetic counselor can help the patient understand the risks and benefits of genetic testing, as well as the potential implications of a positive or negative test result.

NGS Genetic DNA Test cost

The cost of an NGS Genetic DNA Test for SCA8 at DNA Labs India is INR 20,000. This test uses state-of-the-art sequencing technology to analyze the patient's DNA for mutations in the SYNE1 gene. The test is highly accurate and can provide a definitive diagnosis for SCA8.

It is important to note that genetic testing can have emotional and psychological implications, and patients should discuss these issues with their healthcare providers before undergoing testing. Genetic counseling is recommended for all patients considering genetic testing.

Conclusion

SCA8 is a rare but debilitating neurodegenerative disorder that can be diagnosed through genetic testing. NGS Genetic DNA Test at DNA Labs India is an accurate and reliable way to diagnose SCA8, and the cost of the test is INR 20,000. Patients should discuss the risks and benefits of genetic testing with their healthcare providers and consider genetic counseling before undergoing testing.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for SCA8. Contact us to learn more about our services and how we can help you.