Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGD1 gene for Faciogenital dysplasia

PreTest Information

Clinical History of Patient who is going for FGD1 Gene Faciogenital dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGD1 Gene Faciogenital dysplasia NGS Genetic DNA Test gene FGD1

Detail Description

FGD1 Gene and Faciogenital Dysplasia: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Facial and genital dysplasia is a rare genetic disorder that affects both males and females. It is also known as Aarskog-Scott syndrome or faciogenital dysplasia (FGD) and is caused by mutations in the FGD1 gene. This gene is responsible for encoding a protein that is important for the development of facial features, bones, and genitalia.

What are the Symptoms of FGD1 Gene Mutation?

The symptoms of FGD1 gene mutation can vary from person to person. However, the most common symptoms include:

• Abnormal facial features such as a broad forehead, widely spaced eyes, and a small nose
• Short stature
• Abnormalities in the fingers and toes such as webbing and shortness
• Delayed development of speech and language skills
• Learning difficulties
• Abnormalities in the genitalia such as undescended testes and a small penis

How is FGD1 Gene Mutation Diagnosed?

Facial and genital dysplasia is a genetic disorder, and therefore, it can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and reliable method for detecting mutations in the FGD1 gene. This test involves the sequencing of the entire FGD1 gene to identify any changes or mutations. The test can be performed on a blood sample or a cheek swab sample.

What is the Cost of NGS Genetic DNA Test for FGD1 Gene Mutation in India?

The cost of NGS genetic DNA testing for FGD1 gene mutation in India can vary depending on the laboratory and the location. However, on average, the cost of this test is around INR 20,000. It is important to note that this cost may not include additional fees such as consultation charges and sample collection charges.

Conclusion

Facial and genital dysplasia is a rare genetic disorder that can affect a person's facial features, bones, and genitalia. FGD1 gene mutation is responsible for causing this disorder, and it can be diagnosed through genetic testing. NGS genetic DNA testing is a reliable and accurate method for detecting mutations in the FGD1 gene. The cost of this test may vary depending on the laboratory and location, but on average, it is around INR 20,000. If you suspect that you or your child may have FGD, it is important to seek medical advice and consider genetic testing for an accurate diagnosis.

For more information about FGD1 gene mutation and NGS genetic DNA testing, visit DNA Labs India.