Short Description

NGS genetic DNA test detecets for variant and mutation detection in MARS2 gene for Spastic ataxia type 3, autosomal recessive

PreTest Information

Clinical History of Patient who is going for MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MARS2 Gene Spastic ataxia type 3, autosomal recessive

Detail Description

MARS2 Gene Spastic Ataxia Type 3: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Spastic ataxia type 3 is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the MARS2 gene, which provides instructions for making an enzyme called methionyl-tRNA synthetase 2. This enzyme is involved in the production of proteins within cells. When the MARS2 gene is mutated, the enzyme is not produced in sufficient amounts, leading to the symptoms of spastic ataxia type 3.

Symptoms of Spastic Ataxia Type 3

Spastic ataxia type 3 is characterized by a combination of symptoms that affect movement and coordination. These symptoms usually become apparent in childhood, although they can sometimes develop later in life. The most common symptoms of spastic ataxia type 3 include:

• Difficulty walking
• Unsteady gait
• Stiffness in the legs
• Tremors
• Speech difficulties
• Difficulty swallowing
• Loss of sensation in the limbs
• Weakness in the limbs

Diagnosis of Spastic Ataxia Type 3

Spastic ataxia type 3 is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor will perform a neurological examination to assess the patient's motor skills, reflexes, and coordination. They may also order imaging tests, such as an MRI, to look for abnormalities in the brain and spinal cord.

Genetic testing is the most definitive way to diagnose spastic ataxia type 3. This involves analyzing a blood or saliva sample to look for mutations in the MARS2 gene. If a mutation is found, the patient is diagnosed with spastic ataxia type 3.

NGS Genetic DNA Test Cost

The cost of a next-generation sequencing (NGS) genetic DNA test for spastic ataxia type 3 is approximately INR 20,000 in India. This type of test is a comprehensive genetic analysis that can detect mutations in multiple genes at once. NGS testing is becoming increasingly popular for genetic disorders because it is more efficient and cost-effective than traditional genetic testing methods.

Conclusion

Spastic ataxia type 3 is a rare genetic disorder that can cause significant disability. It is caused by mutations in the MARS2 gene, which affects the production of an important enzyme involved in protein synthesis. Diagnosis of spastic ataxia type 3 involves a combination of physical examination, medical history, and genetic testing. The cost of an NGS genetic DNA test for spastic ataxia type 3 is approximately INR 20,000 in India.

If you or a loved one are experiencing symptoms of spastic ataxia type 3, it is important to seek medical attention and consider genetic testing to receive a proper diagnosis. DNA Labs India offers a variety of genetic testing services, including NGS testing for spastic ataxia type 3. Contact us today to learn more.

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 MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic DNA Test