Short Description

NGS genetic DNA test detecets for variant and mutation detection in FAM58A gene for Toe syndactyly, telecanthus, and anogenital and renal malformations

PreTest Information

Clinical History of Patient who is going for FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic DNA Test gene FAM58A

Detail Description

FAM58A Gene Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations NGS Genetic DNA Test

Toe syndactyly, telecanthus, and anogenital and renal malformations are rare genetic disorders that affect the development of various body parts. These disorders can be caused by mutations in the FAM58A gene. The FAM58A gene provides instructions for making a protein that is involved in the growth and development of various tissues in the body.

Symptoms of FAM58A Gene Mutations

The symptoms of FAM58A gene mutations can vary depending on the specific mutation and the severity of the disorder. Some of the common symptoms include:

• Toes that are fused together (toe syndactyly)
• Eyes that are set farther apart than normal (telecanthus)
• Abnormalities of the genitalia and anus (anogenital malformations)
• Abnormalities of the kidneys and urinary tract (renal malformations)

Other symptoms may include intellectual disability, delayed development, and seizures.

Diagnosis of FAM58A Gene Mutations

The diagnosis of FAM58A gene mutations can be made through a genetic test called next-generation sequencing (NGS). NGS is a type of genetic test that can analyze multiple genes at once, making it an efficient and cost-effective way to diagnose genetic disorders.

NGS genetic DNA test for FAM58A gene mutations can cost around INR 20000.

Treatment of FAM58A Gene Mutations

There is currently no cure for FAM58A gene mutations. Treatment options focus on managing the symptoms of the disorder. For example, surgery may be necessary to correct physical abnormalities such as toe syndactyly or anogenital malformations. Other treatments may include medications to control seizures or behavioral therapy to help manage intellectual disability.

Conclusion

FAM58A gene mutations are rare genetic disorders that can cause a range of physical and developmental abnormalities. If you or a loved one are experiencing symptoms of these disorders, it is important to speak with a healthcare provider and consider genetic testing to determine the underlying cause of the symptoms. NGS genetic DNA test for FAM58A gene mutations is an effective and efficient way to diagnose these disorders, with a cost of around INR 20000.

While there is currently no cure for FAM58A gene mutations, early diagnosis and treatment can help manage symptoms and improve quality of life.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS genetic DNA testing for FAM58A gene mutations. Contact us today to learn more about our services and how we can help you get the answers you need.