Short Description

NGS genetic DNA test detecets for variant and mutation detection in LZTFL1 gene for Bardet-Biedl syndrome, LZTFL1 related

PreTest Information

Clinical History of Patient who is going for LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic DNA Test gene LZTFL1

Detail Description

LZTFL1 Gene and Bardet-Biedl Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organ systems in the body. It is caused by mutations in various genes, including LZTFL1. LZTFL1 is a gene that provides instructions for making a protein involved in the transport of proteins within cells. Mutations in this gene can lead to the development of Bardet-Biedl Syndrome.

Symptoms of Bardet-Biedl Syndrome

BBS is characterized by a combination of symptoms that can vary in severity and presentation. Some common symptoms of BBS include:

• Obesity
• Retinitis pigmentosa (a degenerative eye disease that can lead to blindness)
• Polydactyly (extra fingers or toes)
• Kidney abnormalities
• Learning difficulties
• Hypogonadism (reduced hormone production in the gonads)

Not all individuals with BBS will have all of these symptoms, and some may have additional symptoms not listed here.

Diagnosis of Bardet-Biedl Syndrome

BBS is typically diagnosed based on the presence of characteristic symptoms. Genetic testing can also be used to confirm a diagnosis of BBS and identify the specific gene mutation responsible for the disorder. This can be done using Next-Generation Sequencing (NGS) technology, which can analyze multiple genes at once and provide a comprehensive genetic profile.

LZTFL1-Related NGS Genetic DNA Test Cost

The cost of an LZTFL1-related NGS genetic DNA test in India can vary depending on the specific testing facility. On average, the cost is around INR 20,000. It is important to note that insurance may cover some or all of the cost of genetic testing, so it is worth checking with your insurance provider before undergoing testing.

Conclusion

Bardet-Biedl Syndrome is a rare genetic disorder that can have a significant impact on an individual's health and quality of life. Genetic testing, including LZTFL1-related NGS genetic DNA testing, can help to confirm a diagnosis of BBS and identify the specific gene mutation responsible for the disorder. This information can be used to develop personalized treatment plans and improve overall health outcomes for individuals with BBS.

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 LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic DNA Test