Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATXN8OS gene for Spinocerebellar ataxia type 8, autosomal dominant

PreTest Information

Clinical History of Patient who is going for ATXN8OS Gene Spinocerebellar ataxia type 8, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATXN8OS Gene Spinocerebellar ataxia type 8, autosomal dominant

Detail Description

ATXN8OS Gene Spinocerebellar Ataxia Type 8 - Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Spinocerebellar ataxia type 8 (SCA8) is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the ATXN8OS gene, which is located on chromosome 13. SCA8 is an autosomal dominant disorder, meaning that if one parent has the mutated gene, there is a 50% chance of passing it on to their children.

Symptoms of SCA8

The symptoms of SCA8 can vary widely from person to person, and may include:

• Difficulty with balance and coordination
• Unsteady gait
• Tremors
• Difficulty with speech and swallowing
• Weakness in the limbs
• Numbness or tingling in the extremities
• Memory and cognitive problems

The onset of symptoms usually occurs in adulthood, typically between the ages of 30 and 50. However, some individuals may experience symptoms earlier or later in life.

Diagnosis of SCA8

SCA8 can be diagnosed through genetic testing, which involves analyzing a sample of the patient's DNA to look for the specific mutation in the ATXN8OS gene. This can be done through a number of different methods, including:

• PCR testing
• Southern blotting
• Next-generation sequencing (NGS)

NGS is a newer, more advanced method of genetic testing that allows for the analysis of multiple genes at once. It is faster and more cost-effective than traditional testing methods, and can provide more comprehensive results.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for SCA8 in India typically ranges from INR 20,000 to INR 30,000, depending on the specific laboratory and testing method used. However, some laboratories may offer discounts or financial assistance programs for patients who cannot afford the full cost of testing.

Conclusion

SCA8 is a rare genetic disorder that can cause a wide range of symptoms, including difficulty with balance and coordination, tremors, and cognitive problems. It can be diagnosed through genetic testing, including NGS, which is a faster and more cost-effective method of analysis. If you are experiencing symptoms of SCA8, or have a family history of the disorder, it is important to speak with a healthcare provider about genetic testing options.