Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC52A3 gene for Brown-Vialetto-Van Laere syndrome 1

PreTest Information

Clinical History of Patient who is going for SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test gene SLC52A3

Detail Description

SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Brown-Vialetto-Van Laere syndrome 1 (BVVL1) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SLC52A3 gene, which provides instructions for making a protein that is essential for the transport of riboflavin (vitamin B2) into cells. BVVL1 is usually diagnosed in childhood or adolescence and can lead to a range of symptoms, including:

• Progressive muscle weakness and wasting
• Difficulty swallowing
• Hearing loss
• Vision problems
• Breathing difficulties

Diagnosis of BVVL1 typically involves a combination of clinical examination, genetic testing, and imaging studies. A genetic test for the SLC52A3 gene can confirm a diagnosis of BVVL1 and help to identify carriers of the mutation who may be at risk of passing the condition on to their children.

NGS Genetic DNA Test is a highly accurate and reliable method of testing for BVVL1. At DNA Labs India, we offer this test at a cost of INR 20,000. The test involves sequencing the SLC52A3 gene to identify any mutations that may be present. Results are typically available within 2-3 weeks of sample collection.

If you or a loved one are experiencing symptoms of BVVL1 or have a family history of the condition, we recommend speaking with a genetic counselor to discuss the benefits and risks of genetic testing. Our team of experts at DNA Labs India can provide guidance and support throughout the testing process.

Don't let BVVL1 go undiagnosed. Contact DNA Labs India today to schedule your NGS Genetic DNA Test and get the answers you need.