Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGD1 gene for Mental retardation, X-linked type 16

PreTest Information

Clinical History of Patient who is going for FGD1 Gene Mental retardation, X-linked type 16 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FGD1 Gene Mental retardation, X-linked type 16

Detail Description

FGD1 Gene Mental Retardation, X-linked Type 16 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Introduction:

Mental retardation is a condition that affects a person's ability to learn and develop skills at the same rate as others. It can be caused by a variety of genetic and environmental factors, and can range from mild to severe. One genetic cause of mental retardation is a mutation in the FGD1 gene, which is located on the X chromosome. This condition is known as X-linked mental retardation type 16 (MRX16).

What is the FGD1 gene?

The FGD1 gene provides instructions for making a protein that is involved in the development and function of nerve cells. This protein helps to regulate the growth and movement of a type of cell called a fibroblast, which is important for the development of the nervous system. Mutations in the FGD1 gene can disrupt the function of this protein, leading to mental retardation.

Symptoms of MRX16:

MRX16 is characterized by intellectual disability, which can range from mild to severe. Other symptoms may include delayed speech and language development, behavioral problems, and seizures. In some cases, individuals with MRX16 may also have physical abnormalities, such as an unusually small head (microcephaly) or a cleft palate.

Diagnosis:

MRX16 is diagnosed through genetic testing, specifically through Next Generation Sequencing (NGS). This test analyzes the DNA sequence of the FGD1 gene to identify any mutations that may be causing the condition. NGS is a highly accurate and sensitive method of genetic testing, and can detect mutations that other types of tests may miss.

Cost of NGS Genetic DNA Test:

The cost of NGS Genetic DNA Test for MRX16 in India is typically around INR 20,000.

Conclusion:

MRX16 is a genetic condition that can cause intellectual disability and other symptoms. It is caused by mutations in the FGD1 gene, which can be identified through NGS genetic testing. This test is an important tool for diagnosing MRX16 and can help individuals and families understand the underlying cause of the condition. The cost of the test in India is typically around INR 20,000. Early diagnosis and intervention can help individuals with MRX16 reach their full potential and lead fulfilling lives.