Short Description

NGS genetic DNA test detecets for variant and mutation detection in TWNK gene for Spinocerebellar ataxia, infantile-onset

PreTest Information

Clinical History of Patient who is going for TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TWNK Gene Spinocerebellar ataxia, infantile-onset

Detail Description

TWNK Gene Spinocerebellar Ataxia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Spinocerebellar Ataxia (SCA) is a group of genetic disorders that affect the cerebellum and its connections with the spinal cord and brainstem. There are different types of SCA, each caused by a mutation in a different gene. One such gene is TWNK, which is associated with infantile-onset SCA. In this blog post, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for TWNK gene Spinocerebellar Ataxia in India.

Symptoms of TWNK Gene Spinocerebellar Ataxia

Infantile-onset SCA caused by TWNK gene mutation is a rare disorder that affects the nervous system. The symptoms usually appear in the first year of life and may include:

• Delayed motor development
• Weakness and muscle wasting
• Unsteady gait
• Tremors
• Nystagmus (involuntary eye movements)
• Seizures
• Intellectual disability

The severity and progression of symptoms vary among individuals with TWNK gene SCA. Some people may have a milder form of the disease, while others may have a more severe form that leads to early death.

Diagnosis of TWNK Gene Spinocerebellar Ataxia

Diagnosing TWNK gene SCA requires genetic testing to identify the specific mutation. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once and detect mutations that may cause SCA. NGS can also identify other genetic variants that may affect the risk or severity of the disease.

NGS genetic testing for TWNK gene SCA is usually done on a blood or saliva sample. The sample is sent to a specialized laboratory that performs the test. The results are interpreted by a genetic counselor or a medical geneticist.

NGS Genetic DNA Test Cost for TWNK Gene Spinocerebellar Ataxia in India

The cost of NGS genetic testing for TWNK gene SCA in India varies depending on the laboratory and the specific test performed. However, the average cost of NGS genetic testing for SCA in India is around INR 20,000.

It is important to note that genetic testing may not be covered by health insurance in India and may require out-of-pocket expenses.

Conclusion

TWNK gene Spinocerebellar Ataxia is a rare genetic disorder that affects the nervous system and can cause a range of symptoms. NGS genetic testing is a reliable and efficient way to diagnose TWNK gene SCA and other types of SCA. The cost of NGS genetic testing for SCA in India is around INR 20,000, and it is important to consider the potential out-of-pocket expenses. If you suspect you or a loved one may have TWNK gene SCA, it is recommended to consult a genetic counselor or a medical geneticist.

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 TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic DNA Test