Short Description

NGS genetic DNA test detecets for variant and mutation detection in SACS gene for Spastic ataxia Charlevoix-Saguenay type

PreTest Information

Clinical History of Patient who is going for SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SACS Gene Spastic ataxia Charlevoix-Saguenay type

Detail Description

SACS Gene Spastic Ataxia Charlevoix-Saguenay Type NGS Genetic DNA Test Cost INR 20,000 Symptoms Diagnosis

Spastic Ataxia Charlevoix-Saguenay (SACS) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SACS gene, which provides instructions for making a protein called sacsin. This protein plays a crucial role in maintaining the function of nerve cells, especially those involved in movement and coordination.

The symptoms of SACS can vary widely, but typically include:

• Difficulty walking
• Loss of balance and coordination
• Muscle weakness and stiffness
• Speech problems
• Vision problems

Diagnosis of SACS is typically made through genetic testing, which looks for mutations in the SACS gene. Next Generation Sequencing (NGS) is a technique used to sequence DNA quickly and accurately. It is commonly used in genetic testing to identify mutations associated with various disorders, including SACS.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for SACS in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required.

Getting Tested for SACS

If you or someone you know is experiencing symptoms of SACS, it is important to seek medical attention. Your doctor may recommend genetic testing to help diagnose the condition. To get tested, you will need to provide a blood or saliva sample, which will be sent to a laboratory for analysis.

If a diagnosis of SACS is confirmed, your doctor may recommend various treatments and therapies to help manage symptoms. These may include physical therapy, speech therapy, and medications to help control muscle spasms and other symptoms.

Conclusion

SACS is a rare genetic disorder that can cause a wide range of symptoms, including difficulty walking, loss of balance and coordination, and speech problems. Diagnosis is typically made through genetic testing, using techniques like NGS to identify mutations in the SACS gene. If you or someone you know is experiencing symptoms of SACS, it is important to seek medical attention and discuss the possibility of genetic testing with your doctor.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for SACS. Our team of experts is dedicated to providing accurate and reliable results, with a focus on patient care and support. Contact us today to learn more about our testing services and how we can help you get the answers you need.

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 SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic DNA Test