Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC52A2 gene for Brown-Vialetto-Van Laere syndrome type 2

PreTest Information

Clinical History of Patient who is going for SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test gene SLC52A2

Detail Description

SLC52A2 Gene Brown-Vialetto-Van Laere Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder that affects the nervous system. It is caused by mutations in the SLC52A2 gene, which provides instructions for making a protein that is important for the transport of riboflavin (vitamin B2) into cells. BVVL can cause a range of symptoms, including hearing loss, difficulty swallowing, muscle weakness, and respiratory failure.

The diagnosis of BVVL can be made through genetic testing, specifically through next-generation sequencing (NGS) of the SLC52A2 gene. This test can identify mutations in the gene that are associated with BVVL, allowing for a definitive diagnosis.

Symptoms of BVVL

The symptoms of BVVL can vary widely between individuals, but may include:

• Hearing loss
• Difficulty swallowing
• Muscle weakness
• Respiratory failure
• Dizziness
• Loss of sensation in the limbs
• Speech difficulties

These symptoms can appear at any age, from infancy to adulthood. In some cases, the symptoms may be mild and progress slowly over time, while in other cases they may be severe and progress rapidly.

Diagnosis of BVVL

The diagnosis of BVVL can be made through genetic testing, specifically through NGS of the SLC52A2 gene. This test can identify mutations in the gene that are associated with BVVL, allowing for a definitive diagnosis.

In addition to genetic testing, other diagnostic tests may be performed to assess the severity and progression of the disease. These may include:

• Hearing tests
• Swallowing studies
• Lung function tests
• Muscle strength tests
• MRI or CT scans

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for BVVL is typically around INR 20,000 in India. This cost may vary depending on the specific testing laboratory and the extent of the genetic analysis performed. Some insurance plans may cover the cost of genetic testing, while others may require out-of-pocket payment.

Conclusion

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder that can cause a range of symptoms, including hearing loss, difficulty swallowing, muscle weakness, and respiratory failure. Diagnosis of the disease can be made through genetic testing, specifically through NGS of the SLC52A2 gene. The cost of this testing is typically around INR 20,000 in India. If you or a loved one is experiencing symptoms of BVVL, it is important to seek medical attention and consider genetic testing as a means of obtaining a definitive diagnosis.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for BVVL. Our team of experienced professionals is dedicated to providing accurate and timely results to help our clients make informed decisions about their health. Contact us today to learn more about our testing services.

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 SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test