Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF1C gene for Spastic ataxia type 2, autosomal recessive

PreTest Information

Clinical History of Patient who is going for KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1C Gene Spastic ataxia type 2, autosomal recessive

Detail Description

KIF1C Gene Spastic Ataxia Type 2, Autosomal Recessive NGS Genetic DNA Test Cost

KIF1C gene spastic ataxia type 2 is a rare genetic disorder that affects the nervous system. This disorder is caused by mutations in the KIF1C gene, which provides instructions for making a protein that is essential for the normal functioning of nerve cells.

Individuals with KIF1C gene spastic ataxia type 2 experience a range of symptoms, including difficulty with movement and coordination, muscle weakness, and stiffness in the limbs. Other symptoms may include slurred speech, difficulty swallowing, and vision problems.

Diagnosis

Diagnosis of KIF1C gene spastic ataxia type 2 is typically based on the individual's symptoms and family history. Genetic testing can also confirm the presence of mutations in the KIF1C gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for KIF1C gene spastic ataxia type 2 in India is INR 20,000.

Symptoms

The symptoms of KIF1C gene spastic ataxia type 2 can vary widely from person to person. Some of the most common symptoms include:

• Difficulty with movement and coordination
• Muscle weakness
• Stiffness in the limbs
• Slurred speech
• Difficulty swallowing
• Vision problems

Treatment

Currently, there is no cure for KIF1C gene spastic ataxia type 2. Treatment is focused on managing the individual's symptoms and improving their quality of life. This may include physical therapy, speech therapy, and assistive devices to help with mobility.

Conclusion

KIF1C gene spastic ataxia type 2 is a rare genetic disorder that affects the nervous system. Diagnosis is typically based on the individual's symptoms and family history, and genetic testing can confirm the presence of mutations in the KIF1C gene. While there is currently no cure for this disorder, treatment is focused on managing the individual's symptoms and improving their quality of life.

If you suspect that you or a loved one may be affected by KIF1C gene spastic ataxia type 2, it is important to speak with a healthcare professional for proper diagnosis and treatment.

For NGS genetic DNA testing, you can rely on DNA Labs India for accurate and reliable results.

For more information, please visit our website or contact us today.

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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 KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic DNA Test