Short Description

NGS genetic DNA test detecets for variant and mutation detection in FLVCR1 gene for Ataxia, posterior column, with retinitis pigmentosa

PreTest Information

Clinical History of Patient who is going for FLVCR1 Gene Ataxia, posterior column, with retinitis pigmentosa NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FLVCR1 Gene Ataxia, posterior column, with retinitis pigmentosa

Detail Description

FLVCR1 Gene Ataxia with Retinitis Pigmentosa: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

FLVCR1 gene ataxia with retinitis pigmentosa is a rare genetic disorder that affects the nervous system and vision. It is caused by mutations in the FLVCR1 gene, which provides instructions for making a protein that helps transport heme, a molecule that carries iron, in and out of cells. This disorder is characterized by progressive damage to the posterior column of the spinal cord, which results in difficulties with movement and sensation, and retinitis pigmentosa, which leads to vision loss.

Symptoms of FLVCR1 Gene Ataxia with Retinitis Pigmentosa

The symptoms of FLVCR1 gene ataxia with retinitis pigmentosa can vary widely between individuals. However, some common symptoms include:

• Difficulty with balance and coordination
• Muscle weakness and stiffness
• Numbness or tingling in the arms and legs
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Vision loss, starting with night blindness and progressing to tunnel vision and eventual blindness

These symptoms usually appear in childhood or adolescence and progressively worsen over time. In some cases, symptoms may not appear until later in life.

Diagnosis of FLVCR1 Gene Ataxia with Retinitis Pigmentosa

FLVCR1 gene ataxia with retinitis pigmentosa is diagnosed through a combination of clinical evaluation, imaging tests, and genetic testing. A doctor may perform a physical exam and ask about symptoms and family history. Imaging tests, such as an MRI or CT scan, may be used to look for damage to the posterior column of the spinal cord.

Genetic testing is the most definitive way to diagnose FLVCR1 gene ataxia with retinitis pigmentosa. This involves analyzing a sample of DNA, usually obtained through a blood sample, for mutations in the FLVCR1 gene. If a mutation is found, it confirms the diagnosis of the disorder.

NGS Genetic DNA Test Cost for FLVCR1 Gene Ataxia with Retinitis Pigmentosa

The cost of an NGS genetic DNA test for FLVCR1 gene ataxia with retinitis pigmentosa in India can vary depending on the provider and location. On average, the cost of this test can range from INR 15,000 to INR 25,000.

NGS genetic DNA testing is a highly accurate and efficient way to analyze large amounts of DNA. This technology allows for the detection of mutations in the FLVCR1 gene with high sensitivity and specificity. It can also help identify other genetic factors that may contribute to the disorder.

Conclusion

FLVCR1 gene ataxia with retinitis pigmentosa is a rare genetic disorder that affects the nervous system and vision. It is caused by mutations in the FLVCR1 gene and is characterized by progressive damage to the posterior column of the spinal cord and retinitis pigmentosa. Diagnosis of this disorder involves clinical evaluation, imaging tests, and genetic testing. NGS genetic DNA testing is a highly accurate and efficient way to analyze large amounts of DNA and can help confirm the diagnosis of FLVCR1 gene ataxia with retinitis pigmentosa. If you suspect that you or a loved one may have this disorder, it is important to seek medical attention and discuss genetic testing options with a healthcare provider.

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 FLVCR1 Gene Ataxia, posterior column, with retinitis pigmentosa NGS Genetic DNA Test