Short Description

NGS genetic DNA test detecets for variant and mutation detection in VAMP1 gene for Spastic ataxia type 1, autosomal dominant

PreTest Information

Clinical History of Patient who is going for VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VAMP1 Gene Spastic ataxia type 1, autosomal dominant

Detail Description

VAMP1 Gene Spastic Ataxia Type 1: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Spastic ataxia type 1 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the VAMP1 gene, which provides instructions for making a protein that is essential for the proper functioning of nerve cells. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.

Symptoms of Spastic Ataxia Type 1

The symptoms of spastic ataxia type 1 can vary widely from person to person, but typically include:

• Difficulty with coordination and balance
• Stiffness and spasticity of the muscles
• Tremors or shaking
• Slurred speech
• Difficulty swallowing
• Weakness or paralysis in the limbs
• Vision problems

These symptoms usually start in early adulthood, but can occur at any age. The severity of the symptoms can also vary, with some people experiencing only mild symptoms while others are severely affected.

Diagnosis of Spastic Ataxia Type 1

Diagnosis of spastic ataxia type 1 can be difficult, as the symptoms can be similar to those of other neurological disorders. A diagnosis is usually made based on a combination of symptoms, medical history, and genetic testing.

Genetic testing is the most reliable way to diagnose spastic ataxia type 1. This involves analyzing a person's DNA to look for mutations in the VAMP1 gene. This can be done using a variety of techniques, including next-generation sequencing (NGS) technology.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for spastic ataxia type 1 can vary depending on the laboratory and the specific test being performed. At DNA Labs India, the cost of an NGS genetic DNA test for spastic ataxia type 1 is INR 20,000.

This test analyzes a person's DNA to look for mutations in the VAMP1 gene that are associated with spastic ataxia type 1. The test is performed using state-of-the-art NGS technology, which allows for the analysis of multiple genes at once.

Conclusion

Spastic ataxia type 1 is a rare genetic disorder that can cause a range of neurological symptoms. Diagnosis is usually made through genetic testing, and an NGS genetic DNA test can be performed to look for mutations in the VAMP1 gene. At DNA Labs India, this test is available at a cost of INR 20,000. If you or a loved one are experiencing symptoms of spastic ataxia type 1, it is important to speak with a healthcare provider for proper diagnosis and management.

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 VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic DNA Test