Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLEKHG4 gene for Spinocerebellar ataxia type 4, autosomal dominant

PreTest Information

Clinical History of Patient who is going for PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant

Detail Description

PLEKHG4 Gene Spinocerebellar Ataxia Type 4: Symptoms, Diagnosis, and Genetic Testing Cost in India

Spinocerebellar ataxia type 4 (SCA4) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the PLEKHG4 gene, which encodes a protein that is important for the function of nerve cells in the cerebellum and spinal cord. SCA4 is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one mutated copy of the gene from one parent to develop the disorder.

Symptoms of Spinocerebellar Ataxia Type 4

SCA4 typically develops in mid to late adulthood, with symptoms that worsen over time. The most common symptoms of SCA4 include:

• Unsteadiness and difficulty with balance
• Trouble with coordination and fine motor skills
• Slurred speech
• Difficulty swallowing
• Eye movement abnormalities
• Progressive muscle weakness and atrophy

These symptoms are caused by the degeneration of nerve cells in the cerebellum and spinal cord, which are responsible for controlling movement and coordination.

Diagnosis of Spinocerebellar Ataxia Type 4

Diagnosis of SCA4 usually involves a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a neurological exam to assess the patient's muscle strength, reflexes, coordination, and balance. Imaging studies such as MRI or CT scans may also be done to look for structural abnormalities in the brain.

Genetic testing is the most definitive way to diagnose SCA4. A blood or saliva sample is collected from the patient and analyzed for mutations in the PLEKHG4 gene. If a mutation is found, the patient is diagnosed with SCA4.

NGS Genetic DNA Test Cost in India

NGS (next-generation sequencing) genetic testing is a powerful tool for diagnosing genetic disorders such as SCA4. It allows for the rapid and accurate sequencing of large portions of the genome, making it possible to identify mutations in genes associated with specific diseases.

The cost of NGS genetic testing in India can vary depending on the provider and the specific tests being performed. However, on average, the cost of an NGS genetic DNA test for SCA4 in India is around INR 20,000.

Conclusion

Spinocerebellar ataxia type 4 is a rare genetic disorder that can cause significant disability over time. However, with early diagnosis and proper management, patients can receive appropriate care and support to help manage their symptoms. Genetic testing, including NGS, is an important tool for diagnosing SCA4 and other genetic disorders, and can help patients and their families make informed decisions about their healthcare.

If you suspect that you or a loved one may have SCA4, it is important to speak with a healthcare provider to determine the best course of action.

For more information or to schedule an appointment with a genetic counselor or healthcare provider, contact DNA Labs India today.

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 PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic DNA Test